Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares |
ORPHA:2015 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Short nose, High palate |
OMIM:300577 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
17Q21.31 Microduplication Syndrome |
|
High palate, Abnormality of the dentition, Short nose, Anteverted nares, Short philtrum |
ORPHA:217340 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate |
ORPHA:2016 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Short nose, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Long philtrum,... |
ORPHA:261120 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short nose, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge |
ORPHA:1355 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Short nose, Microdontia, Short columella, Cleft palate, Depressed nasal ridge, De... |
ORPHA:1248 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Burn-Mckeown Syndrome |
|
Abnormal palate morphology, Prominent nasal bridge, Short nose, Bilateral choanal atresia, Wide n... |
ORPHA:1200 |
Cleft Lip With Or Without Cleft Palate |
|
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
Non-Distal Duplication 10Q |
|
High palate, Short nose, Everted lower lip vermilion, Convex nasal ridge, Depressed nasal bridge |
ORPHA:1695 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
Lethal Osteosclerotic Bone Dysplasia |
|
Median cleft lip and palate, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgr... |
ORPHA:1832 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Narrow mouth, Downturned corners of mouth, Long philtrum, Thin vermilion border, Depr... |
ORPHA:1906 |
Teebi Hypertelorism Syndrome 2 |
|
Broad nasal tip, High palate, Short nose, Microdontia, Cleft palate, Everted lower lip vermilion,... |
OMIM:619736 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge, Cleft palate |
OMIM:612913 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Clark-Baraitser Syndrome |
|
High palate, Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Smooth phi... |
OMIM:617752 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder |
OMIM:601389 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Thin upper lip vermilion |
ORPHA:46 |
17P13.3 Microduplication Syndrome |
|
Narrow mouth, Short nose, High palate, Wide nose |
ORPHA:217385 |
Anencephaly 2 |
|
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip, Bifid nose |
OMIM:619452 |
Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
Ring Chromosome 8 Syndrome |
|
Short nose, Abnormal palate morphology, Anteverted nares |
ORPHA:1450 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Renal cyst, Renal insufficiency, Death in infancy, Neonatal death, Renal dysp... |
OMIM:614922 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Long philtrum, High palate |
ORPHA:2598 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Prominent nasal bridge, Cleft palate |
ORPHA:85273 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Aminoaciduria, Lacticaciduria, 3-Methylglutaconic aciduria, Renal hypoplasia |
OMIM:604273 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Convex nasal ridge, Cleft palate |
OMIM:600252 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Vesicoureteral reflux, Renal hypoplasia |
ORPHA:85284 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate |
OMIM:223200 |
Joubert Syndrome 26 |
|
Cleft palate, Recurrent upper respiratory tract infections, Cleft lip, Anteverted nares |
OMIM:616784 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares |
OMIM:184840 |
Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Bamforth-Lazarus Syndrome |
|
Bilateral choanal atresia, Cleft palate |
OMIM:241850 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Delayed eruption of permanent teeth, Anteverted nares, Thick vermilion border, Exagge... |
OMIM:618506 |
Alagille Syndrome 2 |
|
Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia |
OMIM:610205 |
Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Open mouth, Short nose, Anteverted nares, Tented upper lip vermilion, Downturned cor... |
OMIM:614744 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Cleft palate, Narrow mouth, Wide nasal bridge, Bulbous nose |
ORPHA:93946 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Dental malocclusion, Depressed nasal bridge, Short columella |
OMIM:155050 |
Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Neonatal death, Cleft palate, Wide nasal bridge, Intestinal malrotation |
OMIM:615524 |
9q subtelomeric deletion syndrome |
|
Short nose, Protruding tongue, Anteverted nares |
DECIPHER:52 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Short nose, Cleft palate, Tented upper lip vermilion, Wide nasal bridge, Thin up... |
OMIM:615716 |
Diabetes Insipidus, Neurohypophyseal |
|
Short nose, Long philtrum, Wide nose |
OMIM:125700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Broad nasal tip, Cleft lip, Cleft palate |
OMIM:300263 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
Trigonocephaly 1 |
|
Short nose, High, narrow palate, Long philtrum, Wide nasal bridge, Meckel diverticulum |
OMIM:190440 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Micropenis, Renal hypoplasia, Hypospadias |
ORPHA:171839 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia, Cleft lip, Cleft palate |
OMIM:612370 |
Chromosome 15Q14 Deletion Syndrome |
|
Cleft lip, Everted lower lip vermilion, Tented upper lip vermilion, Cleft palate, Recurrent viral... |
OMIM:616898 |
Diprosopus |
|
Non-midline cleft lip, Abnormality of the nose, Cleft palate |
ORPHA:1681 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Short nose, Anteverted nares, Everted lower lip ve... |
ORPHA:884 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate... |
ORPHA:1135 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Long philtrum, Smooth philtrum, Depressed nasal bridge, Thin upper lip vermilion |
ORPHA:438178 |
Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Open mouth, Prominent nasal bridge, Short nose, Anteverted nares, Thick upper lip ve... |
OMIM:300558 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, High palate, Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum,... |
OMIM:613544 |
Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
Catifa Syndrome |
|
Tooth malposition, Cleft lip, Cleft palate, Anteverted nares, Long philtrum, Delayed eruption of ... |
OMIM:618761 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
Coffin-Siris Syndrome 11 |
|
High palate, Esophageal atresia, Bifid uvula, Downturned corners of mouth, Bulbous nose, Cleft so... |
OMIM:618779 |
Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Open mouth, Short nose, Deep philtrum, Anteverted nares, Everted lower lip vermi... |
OMIM:137550 |
Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
Adducted Thumbs Syndrome |
|
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate |
OMIM:201550 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Thin upper lip vermilion, Death in infancy, High palate |
OMIM:615042 |
Bamforth-Lazarus Syndrome |
|
Choanal atresia, Cleft palate |
ORPHA:1226 |
Perlman Syndrome |
|
Open mouth, Short nose, High, narrow palate, Anteverted nares, Smooth philtrum, Wide nasal bridge... |
ORPHA:2849 |
Orofaciodigital Syndrome Viii |
|
Broad nasal tip, High palate, Bifid nasal tip, Cleft palate, Median cleft lip |
OMIM:300484 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Open mouth, Short nose, Pierre-Robin sequence, Anteverted nares, Glossoptosis, Wide ... |
OMIM:613604 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Pallister-Hall-Like Syndrome |
|
Short nose, Death in infancy, Cleft palate, Microglossia, Median cleft lip, Depressed nasal bridge |
OMIM:241800 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Short nose, Anteverted nares, Downturned corners of mouth, Short philtrum, Lobulated tongue, Depr... |
OMIM:613443 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death, Anteverted nares |
OMIM:612138 |
Chung-Jansen Syndrome |
|
High palate, Short nose, Anteverted nares, Long philtrum, Thin vermilion border, Short philtrum |
OMIM:617991 |
Stickler Syndrome Type 1 |
|
Short nose, Long philtrum, Cleft palate |
ORPHA:90653 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... |
ORPHA:888 |
Thomas Syndrome |
|
Cleft upper lip, Cleft palate |
ORPHA:3316 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, High palate, Wide nasal bridge, Cleft palate |
OMIM:618388 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Renal hypoplasia |
OMIM:617914 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate |
OMIM:183700 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Hyposmia, Cleft palate, Anosmia, Bifid nose |
OMIM:614838 |
Pai Syndrome |
|
Midline defect of the nose, Bifid uvula, Nasal polyposis, Cleft palate, Abnormal oral frenulum mo... |
ORPHA:1993 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Short nose, Death in infancy, Abnormal palate morphology |
ORPHA:1495 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
ORPHA:464288 |
Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose, Everted lower lip vermilion, Short philtrum, Thin upper lip vermilion, Wide mouth |
ORPHA:2429 |
Stickler Syndrome, Type Ii |
|
Bifid uvula, Cleft palate, High, narrow palate, Anteverted nares, Pierre-Robin sequence, Depresse... |
OMIM:604841 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
Potocki-Shaffer Syndrome |
|
Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Wide nasal bridge, Short phil... |
OMIM:601224 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Zechi-Ceide Syndrome |
|
Oligodontia, Underdeveloped nasal alae, Cleft palate, Wide nose, Wide nasal bridge, Cleft upper lip |
OMIM:612916 |
Meckel Syndrome, Type 8 |
|
Cleft palate, Short nose, Cleft upper lip, Depressed nasal ridge |
OMIM:613885 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Depresse... |
OMIM:614069 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
Distal Duplication 18Q |
|
High palate, Prominent nasal bridge, Short nose, Choanal atresia, Abnormality of dental morpholog... |
ORPHA:1716 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia |
OMIM:613735 |
Acromicric Dysplasia |
|
Short nose, Anteverted nares, Narrow mouth, Long philtrum, Bulbous nose, Thick lower lip vermilion |
ORPHA:969 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft lip, Cleft palate |
ORPHA:1072 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
Non-Distal Duplication 13Q |
|
High palate, Abnormality of the dentition, Short nose, Everted lower lip vermilion, Long philtrum... |
ORPHA:1702 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Open mouth, Short nose, Delayed eruption of permanent teeth, Microdontia, Anteverted nares, Narro... |
OMIM:619356 |
Orofaciodigital Syndrome Xix |
|
High palate, Bifid nasal tip, Underdeveloped nasal alae, Tongue nodules, Accessory oral frenulum,... |
OMIM:620107 |
Meckel Syndrome 12 |
|
Bilateral renal agenesis, Renal hypoplasia, Ureteral hypoplasia |
OMIM:616258 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Renal hypoplasia, Hypoplasia of penis |
ORPHA:85321 |
Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia |
OMIM:618494 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip, Open mouth |
OMIM:613670 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Renal insufficiency, Stage 3 chronic kidney disease, Hyperechogenic... |
OMIM:617595 |
Odontochondrodysplasia |
|
Short nose, Death in infancy, Delayed eruption of teeth, Depressed nasal bridge, Dentinogenesis i... |
ORPHA:166272 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Short nose, Narrow mouth, Depressed nasal ridge, Depressed... |
ORPHA:1529 |
Frontofacionasal Dysplasia |
|
Bifid nasal tip, Short nose, Choanal atresia, Cleft palate, Non-midline cleft lip, Depressed nasa... |
ORPHA:1791 |
Pierpont Syndrome |
|
Broad nasal tip, Short nose, Widely spaced teeth, Broad philtrum, Wide nose, Prominent median pal... |
OMIM:602342 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Short nose, Thin vermilion border |
ORPHA:2370 |
Cebalid Syndrome |
|
High palate, Short nose, Anteverted nares, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Wide mouth, Cleft palate |
OMIM:619981 |
Oculoauriculofrontonasal Syndrome |
|
Cleft lip, Bifid nasal tip, Underdeveloped nasal alae, Broad philtrum, Cleft palate, Wide nose, N... |
ORPHA:398156 |
Matthew-Wood Syndrome |
|
Horseshoe kidney, Vesicoureteral reflux, Renal hypoplasia |
ORPHA:2470 |
Fanconi Anemia, Complementation Group I |
|
Horseshoe kidney, Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia |
OMIM:609053 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Short nose, Anteverted nares, Tented upper lip vermilion, Long philtrum, Bulbous nos... |
OMIM:614105 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short nose, Wide nasal bridge, Cleft palate |
OMIM:614078 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta... |
OMIM:137920 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Death in infancy, Cystic renal dysplasia, Neonatal death |
OMIM:613730 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Convex nasal ridge, Cleft palate |
ORPHA:2145 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Parietal Foramina 1 |
|
Cleft upper lip, Cleft palate |
OMIM:168500 |
Baker-Gordon Syndrome |
|
Short nose, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip |
OMIM:618218 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad nasal tip, Abnormality of the dentition, Short nose, Anteverted nares, Long philtrum, Absen... |
OMIM:618529 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Long nose, High palate, Open mouth, Short nose, Underdeveloped nasal alae, Anteverted nares, Ever... |
OMIM:615866 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Short nose, Death in infancy, Cleft palate, Anteve... |
ORPHA:1790 |
Fetal Alcohol Syndrome |
|
Short nose, Microdontia, Cleft palate, Anteverted nares, Non-midline cleft lip, Smooth philtrum, ... |
ORPHA:1915 |
Miller-Dieker Syndrome |
|
Short nose, Abnormal upper lip morphology, Anteverted nares |
ORPHA:531 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum, Wide nasal bridge, Intestinal... |
ORPHA:401935 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... |
ORPHA:84081 |
12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Ectopic kidney |
ORPHA:94063 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, High palate, Short nose, Anteverted nares, Narrow mouth, Downturn... |
ORPHA:1327 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft, Cleft palate |
OMIM:601349 |
Trisomy 12P |
|
Anal atresia, Short nose, Cleft palate, Everted lower lip vermilion, Downturned corners of mouth,... |
ORPHA:1699 |
Peho-Like Syndrome |
|
Open mouth, Short nose |
OMIM:617507 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Long philtrum, Thick vermilion border |
ORPHA:833 |
Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, High, n... |
ORPHA:2919 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Short nose, Bilateral choanal atresia, Choanal atresia, Anteverted nares, Neo... |
OMIM:619859 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Long philtrum, Abnormal palate morphology |
ORPHA:1389 |
Duplication Of Urethra |
|
Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont... |
ORPHA:237 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Death in infancy, Neonat... |
OMIM:613390 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Fetal Trimethadione Syndrome |
|
Short nose, High palate, Depressed nasal bridge |
ORPHA:1913 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Underdeveloped nasal alae, Cleft palate, Wide nose, Long philtrum, Non-midline cl... |
ORPHA:1252 |
Periventricular Nodular Heterotopia 7 |
|
Short nose, Cleft palate, Anteverted nares, Narrow mouth, Dental crowding, Pierre-Robin sequence |
OMIM:617201 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Renal cyst, Hypospadias |
OMIM:614091 |
Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Median cleft lip |
ORPHA:1234 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Oligodontia, Abnormality of the dentition, Short nose, Cleft palate, Anteverted nares, Dental cro... |
OMIM:616331 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Short nose, Choanal atresia, Anteverted nares, Depressed nasal bridge |
ORPHA:1914 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Short mandibular rami, Orofacial cleft, Cleft palate |
OMIM:141400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia |
OMIM:619758 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Cleft palate |
OMIM:601355 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion, Thick lower l... |
OMIM:619854 |
Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Short nose, Wide nasal bridge |
OMIM:612563 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Short nose, Dental crowding, Narrow mouth, Long philtrum |
OMIM:615539 |
Fetal Hydantoin Syndrome |
|
Short nose, Cleft palate, Everted lower lip vermilion, Depressed nasal ridge, Wide mouth |
ORPHA:1912 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Prominent nasal bridge, Short nose, Underdeveloped nasal alae, Pierre-Robin sequence... |
ORPHA:364577 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:609029 |
Microform Holoprosencephaly |
|
Duodenal atresia, Short nose, Choanal atresia, Solitary median maxillary central incisor, Midnasa... |
ORPHA:280200 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Short nose, Cleft palate, Anteverted nares, Downturned corners of mouth, Long philtr... |
ORPHA:163649 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
Frontonasal Dysplasia 3 |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate |
OMIM:613456 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
Glutamine Deficiency, Congenital |
|
Short nose, Anteverted nares, Neonatal death, Thin vermilion border, Wide nasal bridge, Depressed... |
OMIM:610015 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal palate morphology, Short nose, Deep philtrum, Anteverted nares, Thin vermilion border, C... |
ORPHA:2701 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Non-midline cleft lip, Cleft palate |
ORPHA:2476 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal agenesis, Renal hyp... |
OMIM:617666 |
Ohdo Syndrome |
|
Hypoplasia of teeth, Short nose, Widely spaced teeth, Anteverted nares, Narrow mouth, Long philtr... |
OMIM:249620 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short nose, Anteverted nares, Everted lower lip vermilion, Dental crowding, Long phi... |
OMIM:617877 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
Waardenburg Syndrome Type 1 |
|
Short nose, Underdeveloped nasal alae, Aganglionic megacolon, Cleft palate, Tented upper lip verm... |
ORPHA:894 |
Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Horseshoe kidney, Neonatal death, Renal malrotation, Pelvic kidney, Renal hypoplasia |
OMIM:601186 |
Isotretinoin Syndrome |
|
Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short nose, Submucous cleft hard palate, Cleft palate, Anteverted nares, Long philtrum, Thin verm... |
OMIM:614701 |
Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:248700 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Cleft palate, Narrow mouth, Smooth philtrum, Hypodontia, Wide nasal br... |
ORPHA:1973 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Short nose, Anteverted nares, Tented upper lip vermilion, Long philtrum, Narrow nasa... |
OMIM:619383 |
Codas Syndrome |
|
Midline defect of the nose, Short nose, Abnormality of dental morphology, Anteverted nares, Delay... |
ORPHA:1458 |
Fetal Gaucher Disease |
|
High palate, Death in infancy, Neonatal death, Anteverted nares, Stillbirth, Depressed nasal bridge |
ORPHA:85212 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Open mouth, Short nose, Tented upper lip vermilion, Dental crowding |
OMIM:300143 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft lip, Short nose, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum, W... |
OMIM:618571 |
Oculomaxillofacial Dysostosis |
|
Abnormality of the dentition, Underdeveloped nasal alae, Cleft palate, Abnormality of the nose, W... |
ORPHA:1794 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Abnormal nasal morphology, Choanal atresia, Cleft palate, Non-mid... |
ORPHA:1104 |
Distal Deletion 9P |
|
Abnormality of the dentition, Short nose, High, narrow palate, Cleft palate, Wide nasal bridge |
ORPHA:1642 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, High palate, Open mouth, Short nose, Widely spaced teeth, Downturned corners of mou... |
ORPHA:369891 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Broad philtrum, Short nose, Anteverted nares, Long philtrum, Wide nasal bridge |
OMIM:618577 |
Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Short nose, Cleft palate, Anteverted nares, Long p... |
ORPHA:1358 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Pierre-Robin sequence, Submucous cleft hard palate |
OMIM:192445 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad nasal tip, Anal atresia, Short nose, Aganglionic megacolon, Cleft palate, Tented upper lip ... |
OMIM:614749 |
Femoral-Facial Syndrome |
|
Short nose, Cleft palate, Long philtrum, Thin upper lip vermilion, Orofacial cleft |
ORPHA:1988 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Short nose, Smooth philtrum, Slender nose, Thin upper lip vermilion, Wide mouth |
OMIM:615419 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Short nose, Short philtrum |
ORPHA:85277 |
Orofaciodigital Syndrome Ix |
|
Broad nasal tip, High palate, Abnormality of the dentition, Bifid nasal tip, Accessory oral frenu... |
OMIM:258865 |
Down Syndrome |
|
Macroglossia, Anal atresia, Open mouth, Abnormality of the dentition, Short nose, Microdontia, Ag... |
ORPHA:870 |
Tetrasomy 18P |
|
Narrow mouth, Short nose, Long philtrum, Thin vermilion border |
ORPHA:3307 |
5Q14.3 Microdeletion Syndrome |
|
Open mouth, Short nose, Short philtrum, Anteverted nares |
ORPHA:228384 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Short nose, Everted lower lip vermilion, Tented upper lip vermilion, Smooth philtru... |
ORPHA:261144 |
Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys, Miscarriage |
OMIM:619695 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Open mouth, Short nose, Widely spaced teeth, Everted lower lip vermilion, Advanced eruption of te... |
OMIM:617865 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Broad nasal tip, Anteriorly placed anus, Short nose, Aganglionic megacolon, Cleft palate, Tented ... |
OMIM:239300 |
Johanson-Blizzard Syndrome |
|
Anal atresia, Oligodontia, Abnormality of the dentition, Anteriorly placed anus, Malabsorption, S... |
ORPHA:2315 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Micropenis, Renal hypoplasia |
ORPHA:96170 |
Orofaciodigital Syndrome X |
|
Depressed nasal bridge, Cleft palate |
OMIM:165590 |
Edinburgh Malformation Syndrome |
|
Short nose, Choanal atresia, Anteverted nares, Narrow mouth, Downturned corners of mouth, Thin ve... |
ORPHA:1895 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:616541 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Prominent nasal bridge, Cleft palate, Long philtrum, Smooth philtru... |
ORPHA:261190 |
Duane-Radial Ray Syndrome |
|
Hydronephrosis, Horseshoe kidney, Renal malrotation, Vesicoureteral reflux, Crossed fused renal e... |
OMIM:607323 |
Antley-Bixler Syndrome |
|
Short nose, Choanal atresia, Cleft palate, Anteverted nares, Narrow mouth, Long philtrum |
ORPHA:83 |
Fanconi Anemia, Complementation Group F |
|
Pelvic kidney, Vesicoureteral reflux, Renal hypoplasia, Microphallus |
OMIM:603467 |
Pallister-Hall Syndrome |
|
Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Neonatal death, Renal dyspla... |
OMIM:146510 |
Holoprosencephaly 11 |
|
Cleft lip, Cleft palate |
OMIM:614226 |
Lowry-Maclean Syndrome |
|
Midgut malrotation, Pyloric stenosis, Short nose, Choanal atresia, Talon cusp, Cleft palate, High... |
ORPHA:2409 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
High palate, Oligodontia, Short nose, Dental crowding, Long philtrum, Wide nasal bridge, Thick ve... |
OMIM:617061 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Short nose, Anteverted nares, Smooth philtrum, Thin vermilion border |
OMIM:601853 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Cleft palate, Narrow mouth, Cleft upper lip, Bifid nose |
OMIM:239800 |
Pfeiffer Syndrome |
|
High palate, Short nose, Choanal atresia, Dental crowding, Choanal stenosis, Depressed nasal bridge |
OMIM:101600 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Short nose, Anteverted nares, Protruding tongue, Depressed nasal bridge |
OMIM:242860 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Intestinal malrotation, Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Wide nasal ... |
OMIM:618316 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Open mouth, Bifid uvula, Submucous cleft hard palate, Supernumerary tooth, Thin verm... |
OMIM:617412 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Short nose, Aganglionic megacolon, Cleft palate, Tented upper lip vermilion, Wid... |
OMIM:614207 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
Marshall Syndrome |
|
High palate, Abnormality of the dentition, Short nose, Cleft palate, Anteverted nares, Long philt... |
ORPHA:560 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Depressed nasal tip, Thick nasal alae, Smooth philtrum, Broad columella, Short philtrum, Bulbous ... |
ORPHA:293725 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep... |
ORPHA:49041 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose, Accessory oral frenulum, Cleft palate |
ORPHA:79113 |
16P13.11 Microdeletion Syndrome |
|
Short nose, Cleft palate, Anteverted nares, Smooth philtrum, Thin upper lip vermilion, Depressed ... |
ORPHA:261236 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Tooth agenesis, Choanal atresia, Hyposmia, Cleft palate, Anosmia, Cleft upper lip |
OMIM:147950 |
Aase-Smith Syndrome I |
|
Open mouth, Death in infancy, Cleft palate |
OMIM:147800 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Short nose, Depressed nasal bridge |
ORPHA:99688 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, High palate, Wide nasal bridge |
OMIM:218000 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Cleft palate |
ORPHA:2010 |
Exstrophy-Epispadias Complex |
|
Bladder fistula, Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal tran... |
ORPHA:322 |
Microphthalmia With Limb Anomalies |
|
High palate, Short nose, Deep philtrum, Flared nostrils, Cleft palate, Depressed nasal bridge, Cl... |
OMIM:206920 |
Acrodysostosis |
|
Open mouth, Short nose, Anteverted nares, Delayed eruption of teeth, Wide nasal bridge, Depressed... |
ORPHA:950 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Micropenis, Renal hypoplasia |
OMIM:264480 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hydronephrosis, Nephrocalcinosis, Renal artery stenosis, Aminoaciduria, Renal hypoplasia |
OMIM:617913 |
Raine Syndrome |
|
High palate, Short nose, Choanal atresia, Death in infancy, Microdontia, Enamel hypoplasia, Cleft... |
OMIM:259775 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia, Cleft palate |
OMIM:614880 |
Developmental And Epileptic Encephalopathy 75 |
|
Open mouth, Short nose, Anteverted nares, Wide nasal bridge, Short philtrum |
OMIM:618437 |
Marshall-Smith Syndrome |
|
Open mouth, Short nose, Choanal atresia, Protruding tongue, Anteverted nares, Gingival overgrowth |
ORPHA:561 |
Teebi Hypertelorism Syndrome 1 |
|
Short nose, Anteverted nares, Dental crowding, Long philtrum, Natal tooth, Wide nasal bridge, Dep... |
OMIM:145420 |
Smith-Magenis Syndrome |
|
Open mouth, Short nose, Taurodontia, Cleft palate, Anteverted nares, Tented upper lip vermilion, ... |
ORPHA:819 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Thick vermilion border, Open mouth, Short nose, Downturned corners of mouth, Rec... |
ORPHA:391372 |
Schilbach-Rott Syndrome |
|
Long nose, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Prominent nose |
OMIM:164220 |
Oculodentodigital Dysplasia |
|
High palate, Premature loss of teeth, Selective tooth agenesis, Short nose, Underdeveloped nasal ... |
OMIM:164200 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Short nose, Choanal atresia, Deep philtrum, Cleft palate, Anteverted nares |
OMIM:610536 |
Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of... |
OMIM:614527 |
Acrocallosal Syndrome |
|
Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermilion border, Smooth... |
OMIM:200990 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Short philtrum |
OMIM:612292 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Short nose, Deep philtrum, Anteverted nares, Tented upper lip vermilion, Depressed n... |
ORPHA:314655 |
Stromme Syndrome |
|
Stillbirth, Hydronephrosis, Bilateral renal hypoplasia |
OMIM:243605 |
Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
16P12.1P12.3 Triplication Syndrome |
|
Short nose, High, narrow palate, Long philtrum, Thin vermilion border, Bulbous nose, Wide mouth |
ORPHA:485405 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, High palate, Premature loss of teeth, Hypoplasia of teeth, Short nose, ... |
OMIM:608612 |
Pontocerebellar Hypoplasia, Type 10 |
|
High palate, Short nose, Underdeveloped nasal alae, Widely spaced teeth, Wide nasal bridge, Bulbo... |
OMIM:615803 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Anal atresia, High palate, Short nose, Dental crowding, Narrow nose, Downturned corner... |
OMIM:617602 |
3C Syndrome |
|
Anal atresia, Intestinal malrotation, Short nose, Death in infancy, Cleft palate, High, narrow pa... |
ORPHA:7 |
Achondrogenesis |
|
Short nose, Long philtrum, Anteverted nares |
ORPHA:932 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
Microcephaly-Capillary Malformation Syndrome |
|
Cleft palate, Short nose, Wide nose |
OMIM:614261 |
Malan Syndrome |
|
Short nose, Everted lower lip vermilion, Advanced eruption of teeth, Narrow mouth, Gingival overg... |
OMIM:614753 |
Pfeiffer Syndrome Type 2 |
|
Anal atresia, High palate, Intestinal malrotation, Short nose, Choanal atresia, Cleft palate, Dep... |
ORPHA:93259 |
Holoprosencephaly 3 |
|
Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Proboscis, Short columella, Cl... |
OMIM:142945 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Penile Agenesis |
|
Hydronephrosis, Fetal pyelectasis, Hydroureter, Urethral fistula, Abnormality of the bladder, Abs... |
ORPHA:49 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Open mouth, Abnormality of the dentition, Short nose, Deep philtrum, Anteverted nare... |
OMIM:615398 |
Al-Raqad Syndrome |
|
Narrow mouth, Short nose, Thin upper lip vermilion |
OMIM:616459 |
Pfeiffer Syndrome Type 1 |
|
Short nose, High palate, Depressed nasal bridge |
ORPHA:93258 |
Baraitser-Winter Syndrome 1 |
|
Short nose, Anteverted nares, Long philtrum, Thin upper lip vermilion, Wide nasal bridge, Cleft u... |
OMIM:243310 |
Macrocephaly/Autism Syndrome |
|
Long philtrum, Short nose, High palate, Depressed nasal bridge |
OMIM:605309 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Short nose, Prominent nasal bridge, Aganglionic megacolon |
OMIM:613870 |
Schneckenbecken Dysplasia |
|
Stillbirth, Short nose, Cleft palate |
OMIM:269250 |
Holoprosencephaly 7 |
|
Median cleft palate, Depressed nasal tip, Midline defect of the nose, Median cleft lip and palate... |
OMIM:610828 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, High palate, Short nose, Downturned corners of mouth, Smooth philtrum, Depressed nasal... |
OMIM:618590 |
Bainbridge-Ropers Syndrome |
|
Broad nasal tip, High palate, Intestinal malrotation, Prominent nasal bridge, Underdeveloped nasa... |
OMIM:615485 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Depressed nasal br... |
ORPHA:284169 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Abnormality of the dentition, Prominent nasal bridge, Agenesis of permanent teeth, S... |
ORPHA:251028 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Death in childhood, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:618961 |
Cerebrooculonasal Syndrome |
|
High palate, Prominent nasal bridge, Short nose, Broad philtrum, Solitary median maxillary centra... |
OMIM:605627 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Duodenal stenosis |
ORPHA:2547 |
Prolidase Deficiency |
|
Concave nasal ridge, Short nose, High palate, Depressed nasal bridge |
OMIM:170100 |
Aarskog-Scott Syndrome |
|
Short nose, Broad philtrum, Cleft palate, Anteverted nares, Hypodontia, Wide nasal bridge, Curved... |
OMIM:305400 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Short nose, Deep philtrum, Death in infancy, Anteverted nares, Wide nose, Dep... |
OMIM:613320 |
Andersen-Tawil Syndrome |
|
Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Hypospadias |
ORPHA:314679 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Short nose, Protruding tongue, Long philtrum, Gingival overgrowth, Wide n... |
OMIM:619179 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Short nose, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Prominent nasal bridge, Short nose, Smooth philtrum, Bulbous nose, Depressed nasal bridge |
OMIM:618828 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Short nose, Deep philtrum, Dental malocclusion, Thin upper lip vermilion |
ORPHA:329178 |
Khan-Khan-Katsanis Syndrome |
|
Hydronephrosis, Renal cyst, Ureteral duplication, Vesicoureteral reflux, Renal hypoplasia |
OMIM:618460 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Meckel diverticulum |
ORPHA:163961 |
Van Maldergem Syndrome 1 |
|
Renal hypoplasia, Hypospadias |
OMIM:601390 |
Leukodystrophy, Hypomyelinating, 10 |
|
Short nose, Anteverted nares, Long philtrum, Thin vermilion border, Smooth philtrum, Bulbous nose |
OMIM:616420 |
Trisomy 8Q |
|
High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft lip, Bifid tongue, Wide... |
ORPHA:1752 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Short nose, Volvulus, Depressed nasal bridge |
OMIM:617802 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Unilateral cleft lip, Short nose, Cleft palate, Anteverted nares, Wide nasal bridge |
OMIM:616897 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Short nose, Deep philtrum, Tented upper lip vermilion, Depressed nasal bridge, Exagg... |
OMIM:619833 |
Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma |
ORPHA:2874 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Death in infancy, Depressed nasal ridge, Short philtrum, Wide mouth |
ORPHA:163966 |
Achondrogenesis Type 1B |
|
Short nose, Long philtrum, Anteverted nares |
ORPHA:93298 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Cleft hard palate |
ORPHA:166016 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Short nose, Anteverted nares, Narrow mouth, Long philtrum, Carious teeth |
OMIM:219200 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis |
OMIM:620183 |
Cerebrofaciothoracic Dysplasia |
|
Short nose, Broad philtrum, Cleft palate, Wide nose, Cleft upper lip, Wide mouth |
ORPHA:1394 |
Short-Rib Thoracic Dysplasia 12 |
|
Cystic renal dysplasia, Renal hypoplasia, Neonatal death |
OMIM:269860 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Glossoptosis, Underdeveloped nasal alae, Anteverted nares |
ORPHA:2031 |
Marshall Syndrome |
|
Bifid uvula, Short nose, Cleft palate, Anteverted nares, Macrodontia of permanent maxillary centr... |
OMIM:154780 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Oligodontia, Hypoplasia of teeth, Short nose, Anteverted nares, Wide nose, Narrow mouth, Downturn... |
ORPHA:391408 |
Van Maldergem Syndrome 2 |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:615546 |
19P13.13 Microdeletion Syndrome |
|
Macroglossia, High palate, Short nose, Anteverted nares, Narrow mouth, Smooth philtrum, Depressed... |
ORPHA:357001 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis |
OMIM:619817 |
3Q29 Microdeletion Syndrome |
|
High palate, Abnormality of the dentition, Prominent nasal bridge, Short nose, Everted lower lip ... |
ORPHA:65286 |
Pfeiffer Syndrome Type 3 |
|
Anal atresia, High palate, Intestinal malrotation, Short nose, Choanal atresia, Cleft palate, Dep... |
ORPHA:93260 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Hydronephrosis, Renal cyst, Microphallus, Vesicoureteral reflux, Renal hypoplasia |
OMIM:618454 |
Achondrogenesis Type 1A |
|
Short nose, Long philtrum, Anteverted nares |
ORPHA:93299 |
Cornelia De Lange Syndrome 1 |
|
Abnormal renal morphology, Proteinuria, Renal cyst, Ectopic kidney, Reduced renal corticomedullar... |
OMIM:122470 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Short nose, Depressed nasal bridge |
ORPHA:2143 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:3138 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Agenesis of permanent teeth, Cleft lip, Short nose, Cleft palate, Antever... |
OMIM:616894 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Death in childhood, High palate, Low insertion of columella, Short nose, Underdeveloped nasal ala... |
OMIM:619005 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Open mouth, Short nose, Tented upper lip vermilion, Downturned corners of mouth, Bulbous nose, De... |
OMIM:618430 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Megacystis, Hydroureter, Neonatal death, Fetal megacystis |
OMIM:619362 |
Fibrochondrogenesis 1 |
|
Short nose, Cleft palate, Anteverted nares, Narrow mouth, Stillbirth, Long philtrum, Depressed na... |
OMIM:228520 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Long philtrum |
OMIM:300887 |
Kinsship Syndrome |
|
Horseshoe kidney, Death in infancy, Renal hypoplasia |
OMIM:619297 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Abnormality of the dentition, Short nose, Thick vermilion border, Prominent nose, De... |
ORPHA:363528 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Pursed lips, Short nose, Underdeveloped nasal alae, Dental crowding, Narrow mouth, L... |
OMIM:193700 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge |
OMIM:616910 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short nose, Wide nasal bridge |
OMIM:611936 |
Autosomal Dominant Omodysplasia |
|
Short nose, Long philtrum, Depressed nasal bridge |
ORPHA:93328 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteriorly placed anus, Short nose, Cleft palate, Anteverted nares, Downturned corners of mouth, ... |
OMIM:217980 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micropenis, Renal hypoplasia |
OMIM:614083 |
Smith-Kingsmore Syndrome |
|
Open mouth, Short nose, Long philtrum, Smooth philtrum, Depressed nasal bridge, Thin upper lip ve... |
OMIM:616638 |
C Syndrome |
|
Thick anterior alveolar ridges, High palate, Short nose, Accessory oral frenulum, Anteverted nare... |
OMIM:211750 |
Baller-Gerold Syndrome |
|
Anal atresia, High palate, Prominent nasal bridge, Anteriorly placed anus, Malabsorption, Short n... |
ORPHA:1225 |
Cenani-Lenz Syndrome |
|
Short nose, High, narrow palate, Hypodontia, Convex nasal ridge, Abnormal dental enamel morpholog... |
ORPHA:3258 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Concave nasal ridge, Macroglossia, Short nose, Anteverted nares, Depressed nasal bridge |
OMIM:613038 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Long philtrum, Wide mouth, Depressed nasal bridge |
OMIM:608776 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Short philtrum, Thin vermilion border, Downturned corners of mouth |
ORPHA:2983 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Short nose, Multiple impacted teeth, Cleft palate, Narrow mouth, Wide n... |
OMIM:311300 |
Frontofacionasal Dysplasia |
|
Midline defect of the nose, Bifid uvula, Short nose, Underdeveloped nasal alae, Cleft upper lip, ... |
OMIM:229400 |
Micro Syndrome |
|
High palate, Short nose, Anteverted nares, Wide nasal bridge, Short philtrum |
ORPHA:2510 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Smooth philtrum |
OMIM:614526 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Broad nasal tip, High palate, Prominent nasal bridge, Short nose, Long philtrum, Smooth philtrum,... |
OMIM:300749 |
Peho Syndrome |
|
Open mouth, Short nose, Tented upper lip vermilion |
OMIM:260565 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal atresia, High palate, Open mouth, Short nose, Cleft palate, Anteverted nares, Long philtrum,... |
OMIM:614080 |
Alagille Syndrome 1 |
|
Stage 5 chronic kidney disease, Duplicated collecting system, Renal artery stenosis, Renal dyspla... |
OMIM:118450 |
Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy |
OMIM:600057 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Macroglossia, Open mouth, Short nose, Widely spaced teeth, Microdontia, Short columella, Everted ... |
OMIM:156200 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Short nose, Microdontia, Cleft palate, Abnormal dental enamel morphology, Depressed nasal bridge |
ORPHA:1812 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Abnormality of the dentition, Short nose, Anteverted nares, Everted lower lip vermil... |
OMIM:608156 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Prominent nasal bridge, Short nose, Deep philtrum, Anteverted nares, Everted lower l... |
ORPHA:1974 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Abnormality of the dentition, Tooth malposition, Short nose, Talon cusp, Microdontia... |
ORPHA:363417 |
Desmosterolosis |
|
Intestinal malrotation, Bifid uvula, Short nose, Submucous cleft hard palate, Cleft palate, Narro... |
ORPHA:35107 |
Tetrasomy 5P |
|
High palate, Short nose, Anteverted nares, Long philtrum, Wide nasal bridge |
ORPHA:3309 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Wide nasal bridge, Depressed nasal ... |
OMIM:616430 |
Rhombencephalosynapsis |
|
Esophageal atresia, Anal atresia, Short nose, Aganglionic megacolon, Anteverted nares, Narrow mou... |
ORPHA:59315 |
16P11.2P12.2 Microdeletion Syndrome |
|
Long nose, Open mouth, Short nose, Anteverted nares, Absent nasal bridge, Bulbous nose, Orofacial... |
ORPHA:261211 |
Desmosterolosis |
|
Short nose, Gingival fibromatosis, Cleft palate, Anteverted nares, Alveolar ridge overgrowth, Hyp... |
OMIM:602398 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Narrow nasal bridge |
ORPHA:1514 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Downturned corners of mouth, Thick vermilion border, Anteverted nares |
ORPHA:1185 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Short nose, Anteverted nares, Submucous cleft soft palate, Wide nasal bridge, Cleft soft palate |
ORPHA:2282 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Hypoplastic nasal septum, Wide nasal bridge, Neonatal death |
OMIM:112310 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Short nose, Thin upper lip vermilion, Abnormal nostril morphology |
ORPHA:1295 |
Prader-Willi Syndrome Due To Translocation |
|
Microdontia of primary teeth, Triangular-shaped open mouth, Broad nasal tip, Underdeveloped nasol... |
ORPHA:177907 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short nose, Depressed nasal ridge, Wide nose |
ORPHA:2831 |
Orofaciodigital Syndrome Type 4 |
|
Anal atresia, Bifid uvula, Rectal atresia, Short nose, Choanal atresia, Submucous cleft hard pala... |
ORPHA:2753 |
Hypoglossia-Hypodactyly Syndrome |
|
Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Death in infancy, C... |
ORPHA:989 |
Cockayne Syndrome Type 3 |
|
Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater... |
ORPHA:90324 |
Autosomal Recessive Omodysplasia |
|
Short nose, Long philtrum, Depressed nasal bridge, Anteverted nares |
ORPHA:93329 |
Warburg Micro Syndrome 3 |
|
Short nose, Narrow palate, Downturned corners of mouth |
OMIM:614222 |
Oculodentodigital Dysplasia |
|
Tooth agenesis, Short nose, Underdeveloped nasal alae, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2710 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Pyloric stenosis, Short nose, Submucous cleft hard palate, Long philtrum, Thin upper... |
ORPHA:457279 |
Diaphanospondylodysostosis |
|
Cleft palate, Short nose, Depressed nasal bridge, Depressed nasal ridge |
OMIM:608022 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Death in childhood, High palate, Short nose, Convex nasal ridge, Depressed nasal bridge, Wide mouth |
OMIM:300661 |
Autosomal Recessive Robinow Syndrome |
|
Ankyloglossia, Supernumerary tooth, Bifid tongue, Short nose, Downturned corners of mouth, Wide n... |
ORPHA:1507 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Oligodontia, Prominent nasal bridge, Underdeveloped nasal alae, Pierre-Robin sequenc... |
OMIM:608670 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Horseshoe kidney, Pelvic kidney, Renal agenesis, Renal hypoplasia, Hypospadias |
ORPHA:508498 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short nose, Underdeveloped nasal alae, Solitary median maxillary central incisor, Anteverted nare... |
OMIM:613026 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, High palate, Wide nasal bridge |
OMIM:618005 |
Alkuraya-Kucinskas Syndrome |
|
Short nose, High palate, Depressed nasal bridge, Anteverted nares |
OMIM:617822 |
Ruvalcaba Syndrome |
|
Short nose, Dental crowding, Narrow mouth, Thin vermilion border, Convex nasal ridge |
ORPHA:3121 |
Distal Deletion 10Q |
|
Anal atresia, High palate, Prominent nasal bridge, Short nose, Cleft palate, Smooth philtrum, Wid... |
ORPHA:96148 |
8P23.1 Microdeletion Syndrome |
|
High palate, Prominent nasal bridge, Short nose, Thin vermilion border, Wide nasal bridge |
ORPHA:251071 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Thin upper lip vermilion, Wide mouth |
OMIM:103050 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Broad nasal tip, High palate, Short nose, Anteverted nares, Long philtrum, Smooth philtrum, Cario... |
ORPHA:357074 |
Meier-Gorlin Syndrome 6 |
|
Short nose, Underdeveloped nasal alae, Anteverted nares, Cleft palate, Depressed nasal ridge, Dep... |
OMIM:616835 |
Au-Kline Syndrome |
|
High palate, Oligodontia, Open mouth, Prominent nasal bridge, Bifid uvula, Bifid nasal tip, Short... |
OMIM:616580 |
Miller-Dieker Lissencephaly Syndrome |
|
Duodenal atresia, Short nose, Cleft palate, Anteverted nares, Delayed eruption of teeth, Wide nas... |
OMIM:247200 |
20Q11.2 Microduplication Syndrome |
|
Tented philtrum, Short nose, Abnormal nasal bridge morphology, Anteverted nares, Tented upper lip... |
ORPHA:363659 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Absent nares, Bifid uvula, Submucous cleft hard palate, Hyposmia, Cleft palate... |
ORPHA:2250 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate |
OMIM:611561 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Short nose, Cleft palate, Narrow mouth, Long philtrum, Depressed nasal bridge, Thin upper lip ver... |
OMIM:601353 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Abnormal dental enamel morpholog... |
ORPHA:1071 |
Pde4D Haploinsufficiency Syndrome |
|
Short nose, Long philtrum, Short philtrum, Abnormal dental enamel morphology, Prominent nose, Dep... |
ORPHA:439822 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Abnormality of the dentition, Eruption failure, Short nose, Dental crowding, Long ph... |
ORPHA:476126 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Cleft lip, Short nose, Cleft palate, Narrow mouth, Long philtrum, Malrotation of sma... |
ORPHA:2953 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
High palate, Prominent nasal bridge, Short nose, Deep philtrum, Anteverted nares, Narrow palate, ... |
OMIM:227330 |
Achondrogenesis, Type Ia |
|
Short nose, Protruding tongue, Anteverted nares, Stillbirth, Depressed nasal bridge, Hypoplastic ... |
OMIM:200600 |
Lathosterolosis |
|
High palate, Short nose, Anteverted nares, Downturned corners of mouth, Long philtrum, Gingival o... |
ORPHA:46059 |
14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
Smith-Lemli-Opitz Syndrome |
|
Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Ureteropelvic junction obstructi... |
OMIM:270400 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate |
OMIM:618021 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Acrofacial Dysostosis, Catania Type |
|
Abnormality of the dentition, Tooth agenesis, Abnormal palate morphology, Short nose, Smooth phil... |
ORPHA:1786 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis |
OMIM:181270 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Duodenal atresia, Short nose, Cleft palate, Anteverted nares, Wide nose, Long philtrum, Triangula... |
OMIM:257300 |
Intellectual Developmental Disorder, X-Linked 98 |
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Long nose, Open mouth, Prominent nasal bridge, Short nose, Underdeveloped nasal alae, Anteverted ... |
OMIM:300912 |
Syndromic Diarrhea |
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Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:84064 |
Cardiofaciocutaneous Syndrome 1 |
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High palate, Open mouth, Abnormality of the dentition, Short nose, Submucous cleft hard palate, D... |
OMIM:115150 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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Short nose, Narrow nasal bridge, Hypodontia |
ORPHA:544503 |
Poland Syndrome |
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Duplicated collecting system, Renal hypoplasia/aplasia, Ureterocele, Vesicoureteral reflux, Renal... |
ORPHA:2911 |
Trisomy 20P |
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Abnormality of the dentition, Abnormal palate morphology, Short nose, Microdontia, Anteverted nar... |
ORPHA:261318 |
Peho Syndrome |
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Open mouth, Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Abnorm... |
ORPHA:2836 |
Kaufman Oculocerebrofacial Syndrome |
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