Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Ventricular septal defect, Facial cleft, Anterior encephalocele |
OMIM:601357 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Testicular atrophy |
OMIM:601163 |
3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Anteverted nares, Wide nasal bridge |
ORPHA:1621 |
Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Trigonocephaly 2 |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:614485 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:2007 |
Aarskog-Scott Syndrome |
|
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... |
OMIM:305400 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
OMIM:209970 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias |
ORPHA:1355 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Non-Distal Duplication 10Q |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Convex nasal ridge |
ORPHA:1695 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Wide nasal bridge, Broad nasal tip |
OMIM:600093 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Anophthalmia Plus Syndrome |
|
Facial cleft, Spina bifida |
ORPHA:1104 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Cryptorchidism, Wide nasal bridge, Bicornuate uterus, Neonatal death |
OMIM:615524 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Cryptorchidism, Wide nasal bridge |
OMIM:618393 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose |
OMIM:125700 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
17Q21.31 Microduplication Syndrome |
|
Short nose, Anteverted nares, Delayed puberty |
ORPHA:217340 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thick nasal alae, Wide nasal bridge, Broad nasal tip |
OMIM:618147 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares |
ORPHA:2015 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries |
ORPHA:2229 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Alazami Syndrome |
|
Wide nose, Retractile testis, Depressed nasal bridge, Wide nasal bridge |
OMIM:615071 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:609528 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... |
ORPHA:99776 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Wide ... |
ORPHA:1703 |
Intellectual Disability, Wolff Type |
|
Cryptorchidism, Bulbous nose, Hypospadias, Wide nasal bridge |
ORPHA:3080 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Facial cleft, Webbed neck, Intrauterine growth retardation, Spina bifida occulta |
ORPHA:1786 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:619311 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Wide nasal bridge |
ORPHA:3207 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Facial cleft |
ORPHA:1791 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Lamb-Shaffer Syndrome |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:616803 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft |
OMIM:603671 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Wide nasal bridge |
OMIM:612626 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Hypospadias |
OMIM:616910 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Wide nasal bridge, Oligomenorrhea, Broad nasal tip |
OMIM:620393 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Umbilical hernia, Short nose |
OMIM:613544 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1450 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Wide nasal bridge |
OMIM:619844 |
Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Mild short stature, Facial cleft |
ORPHA:952 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft, Abnormal heart morphology |
OMIM:239800 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Wide nasal bridge, Hypogonadism, Type II... |
ORPHA:791 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy |
OMIM:222300 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Megalencephaly |
|
Macroorchidism, Long penis, Wide nasal bridge |
ORPHA:2477 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Cofs Syndrome |
|
Abnormal nasal morphology, Hypogonadism, Wide nasal bridge |
ORPHA:1466 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Hypoplastic female external geni... |
OMIM:618577 |
Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hyperinsulinemia, Wide nasal bridge, Abnor... |
ORPHA:2849 |
Potocki-Shaffer Syndrome |
|
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Depressed nasal bridge, Wide nasal bridge, Elevated circulating parathyroid hormone level, Concav... |
OMIM:122860 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... |
OMIM:614732 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Micropenis, Short columell... |
ORPHA:171839 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:1513 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Ambiguous genitalia, ... |
ORPHA:93328 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Delayed puberty |
ORPHA:1825 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Wide nasal bridge, Broad nasal tip |
ORPHA:73273 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Wide nasal bridge |
OMIM:614870 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Bilateral cryptorchidism, Coronal hypo... |
OMIM:619859 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Wide nasal bridge, Depressed nasal tip, Midshaft hypospadias, Anterior hypopituit... |
ORPHA:2863 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618388 |
Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Facial cleft |
OMIM:217100 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Prominent nasal tip |
ORPHA:352490 |
Lissencephaly 4 |
|
Wide nasal bridge |
OMIM:614019 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Ambiguous genitalia, Low hanging co... |
OMIM:272440 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Wide nasal bridge |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose |
OMIM:300143 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Cryptorchidism, A... |
ORPHA:1716 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:2053 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose |
OMIM:618379 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Hypospadias, Prominent nasal bridge, Prominent nose, Cryptorchidism, W... |
OMIM:300978 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... |
ORPHA:521308 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1832 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose |
OMIM:300581 |
Oculomaxillofacial Dysostosis |
|
Short stature, Facial cleft |
ORPHA:1794 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares |
OMIM:617991 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Short nose |
ORPHA:217385 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Cryptorchidism, Micropenis, Short nose |
OMIM:602342 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism, Wide nasal bridge |
OMIM:619595 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, Anteverted nares, Wide nasal bridge, External genital hypoplasia |
OMIM:600118 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge |
OMIM:612913 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Shawl scrotum |
ORPHA:2256 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... |
OMIM:615583 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base, Low hanging columella |
OMIM:617788 |
Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Wide nasal bridge, Ambiguous genitalia, Micropenis, Decreased testicular ... |
OMIM:300215 |
X-Linked Intellectual Disability, Snyder Type |
|
Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Abnormality ... |
ORPHA:3063 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Ring Chromosome 6 Syndrome |
|
Wide nasal bridge |
ORPHA:1448 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft |
ORPHA:1647 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Pontocerebellar Hypoplasia Type 10 |
|
Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:411493 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Cryptorchidism |
OMIM:615419 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Wide nasal bridge, Prominent nose |
OMIM:617169 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Congeni... |
OMIM:614613 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Micropenis |
ORPHA:2872 |
Velo-Facial-Skeletal Syndrome |
|
Wide nasal bridge |
ORPHA:3424 |
Ring Chromosome 1 Syndrome |
|
Anteverted nares, Wide nasal bridge |
ORPHA:1437 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Micropenis, Wide nasal bridge |
OMIM:614684 |
Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Polycystic ovaries, Convex nasal ridge |
ORPHA:1580 |
14Q11.2 Microdeletion Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:261120 |
Ohdo Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short... |
OMIM:249620 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Umbilical hernia, Prominent nasal tip |
OMIM:615834 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... |
OMIM:613792 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Wide nose, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1252 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... |
ORPHA:1248 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:264470 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypogonadism, Short nose, Spina bifida occulta |
ORPHA:2983 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Decreased testicular ... |
OMIM:619185 |
Kahrizi Syndrome |
|
Bulbous nose, Wide nasal bridge |
OMIM:612713 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:1237 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose |
ORPHA:1529 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Wide nasal bridge |
ORPHA:166024 |
Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, Wide nasal bridg... |
ORPHA:950 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1516 |
Mulibrey Nanism |
|
Wide nasal bridge |
ORPHA:2576 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Delayed puberty |
ORPHA:2598 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
Monosomy 5P |
|
Wide nasal bridge |
ORPHA:281 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hypospadias, Wide nasal bridge, Cryptorchidism |
OMIM:175700 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Wide nasal bridge, Prominent nose |
ORPHA:137831 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Wide nasal bridge |
OMIM:619690 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:313420 |
Zimmermann-Laband Syndrome 3 |
|
Wide nasal bridge, Broad nasal tip |
OMIM:618658 |
Filippi Syndrome |
|
Wide nose, Prominent nasal bridge, Supernumerary nipple, Underdeveloped nasal alae, Cryptorchidis... |
ORPHA:3255 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Ambiguous genitalia, Short nose |
OMIM:613885 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:2083 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Bulbous nose, Wide nasal bridge |
OMIM:615761 |
Trigonocephaly 1 |
|
Short nose, Long penis, Wide nasal bridge |
OMIM:190440 |
Gand Syndrome |
|
Wide nasal bridge, Broad nasal tip |
OMIM:615074 |
Omodysplasia 2 |
|
Dyspareunia, Depressed nasal bridge, Hypospadias, Bifid nasal tip, Cryptorchidism, Wide nasal bri... |
OMIM:164745 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Anterior basal encephalocele, Wide nasal bridge, Short columell... |
OMIM:136760 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Short nose, Anteverted nares |
ORPHA:2701 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose |
ORPHA:2370 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... |
ORPHA:1295 |
Non-Syndromic Metopic Craniosynostosis |
|
Wide nasal bridge |
ORPHA:3366 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Short nose |
ORPHA:1914 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:615979 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Wide nasal bridge, Hydrocele testis, Neonatal death, Micropenis |
OMIM:618810 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Wide nasal bridge, Underdeveloped nasal alae |
OMIM:248910 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella |
OMIM:617752 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Umbilical hernia, Wide nasal bridge, Shawl scrotum, Cryptorchidism |
ORPHA:1778 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Neonatal death, Short nose |
OMIM:610015 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2077 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Short nose, Aplasia of the uterus |
OMIM:266810 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... |
OMIM:613451 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Wide nasal bridge, Umbilical hernia, Short ... |
ORPHA:369891 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Wide nasal bridge, Cryptorchidism |
OMIM:224410 |
Chromosome 16Q22 Deletion Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge, Hypospadias |
OMIM:614541 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Short ... |
ORPHA:210548 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:620316 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Miller-Dieker Syndrome |
|
Short nose, Anteverted nares |
ORPHA:531 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Facial cleft |
ORPHA:268249 |
Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:93329 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Anteverted nares |
OMIM:618506 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Micropenis, Anterior hypopituitarism, Short nose |
OMIM:241800 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Bicornuate uterus, Abnormality of the uterus, Umbilical hernia, Short nose |
ORPHA:2143 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Wide nasal bridge |
OMIM:615032 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Shawl scrotum, Umbilical hernia |
ORPHA:915 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge |
OMIM:614066 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Facial cleft |
ORPHA:861 |
Joubert Syndrome 10 |
|
Wide nasal bridge |
OMIM:300804 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Prominent nose, Cryptorchidism, Wide nasal... |
OMIM:618316 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:300958 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Umbilical hernia, Wide nasal bridge |
OMIM:616025 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Short nose, Anteverted nares |
OMIM:617201 |
Teebi Hypertelorism Syndrome 2 |
|
Short nose, Depressed nasal bridge, Hypospadias, Broad nasal tip |
OMIM:619736 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge |
ORPHA:261229 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Shawl scrotum |
ORPHA:85277 |
Achondrogenesis |
|
Umbilical hernia, Short nose, Anteverted nares |
ORPHA:932 |
8Q22.1 Microdeletion Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Abnormal nostril morphology |
ORPHA:178303 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hydrocele testis, Bicornuate uterus,... |
OMIM:145420 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia, Spina bifida occulta, Anteverted nares, Wide na... |
ORPHA:1797 |
Non-Distal Duplication 13Q |
|
Cryptorchidism, Short nose |
ORPHA:1702 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Chromosome 18P Deletion Syndrome |
|
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge, Gonadal dysgenesis, M... |
OMIM:146390 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Wide nasal bridge |
ORPHA:380 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge |
OMIM:617127 |
Lig4 Syndrome |
|
Prominent nose, Cryptorchidism, Wide nasal bridge, Type II diabetes mellitus, Micropenis, Hypothy... |
OMIM:606593 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Short nose, Depressed nasal bridge, Cryptorchidism |
OMIM:616638 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Cryptorchidism, Small scrotum, Wide nasal bridge |
ORPHA:1970 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:77300 |
Pentasomy X |
|
Wide nasal bridge, Delayed puberty |
ORPHA:11 |
Trisomy 18P |
|
Bilateral cryptorchidism, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1715 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Cryptorchidism, Wide nasal bridg... |
OMIM:620073 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:613604 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft |
ORPHA:306542 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Wide nasal bridge |
OMIM:610127 |
Rafiq Syndrome |
|
Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Underdeveloped nasolabial fold |
OMIM:614202 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... |
OMIM:110100 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618067 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Short nose, Anteverted nares |
ORPHA:93298 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Hypothyr... |
ORPHA:85321 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Short nose |
OMIM:243310 |
Aminoacylase 1 Deficiency |
|
Wide nasal bridge |
OMIM:609924 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Hypospadias, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorc... |
OMIM:619293 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Low hanging columella |
OMIM:618659 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Wide nasal bridge, Congenital hypothyroidism |
ORPHA:352530 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Cryptorchidism, Short nose, Depressed nasal ridge |
ORPHA:1912 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose |
ORPHA:1495 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Prominent nasal bridge, Short nose, Micropenis |
OMIM:613870 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Short nose, Anteverted nares |
OMIM:619356 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:615716 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Short nose, Anteverted nares |
ORPHA:93299 |
Woods Syndrome |
|
Wide nasal bridge, Supernumerary nipple, Low hanging columella |
OMIM:615236 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae, Prominent nose |
OMIM:611091 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Prominent nasolabial fold, Convex nasal ridge, Wide nasal bridge, Broad nasal tip |
OMIM:619451 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Wide nasal bridge |
OMIM:616521 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Short nose, Depressed nasal bridge, Hypospadias |
ORPHA:1913 |
Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Facial cleft, Ethmocephaly, Single ventricle |
OMIM:236100 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... |
OMIM:613038 |
Noonan Syndrome 6 |
|
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge |
OMIM:613224 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Convex nasal ridge, Wide nasal bridge |
OMIM:314320 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Hypospadias, Wide nasal bridge, Cryptorchidism |
OMIM:601499 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasol... |
ORPHA:391372 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Short nose, Delayed puberty |
ORPHA:496790 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Low insertion o... |
OMIM:619995 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, Wide nasal bridge |
ORPHA:3369 |
Orofaciodigital Syndrome Xviii |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:617927 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Depressed nasal ridge, Wide nasal bridge, Midline defect of the nose, Shawl scrotum |
ORPHA:1520 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
ORPHA:163654 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, Hypospadias, Wide nasal bridge |
ORPHA:98791 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Wide nasal bridge, Testicular torsion |
ORPHA:75496 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:619556 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Anteverted nares, Wide nasal bridge |
OMIM:312170 |
Femoral-Facial Syndrome |
|
Cryptorchidism, Short nose, Long penis, Maternal diabetes |
ORPHA:1988 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:618009 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Spina bifida, Anteverted nares, Short nose |
ORPHA:1327 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge |
ORPHA:2180 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Wide nasal bridge |
OMIM:618402 |
Fraser Syndrome 1 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Facial cleft, Abnormal heart morphology |
OMIM:219000 |
Zechi-Ceide Syndrome |
|
Wide nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:612916 |
3Mc Syndrome 3 |
|
Growth delay, Short stature, Facial cleft |
OMIM:248340 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617392 |
Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridg... |
ORPHA:2510 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge |
OMIM:618302 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infections, Wide nasal ... |
OMIM:612513 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
6Q25 Microdeletion Syndrome |
|
Wide nasal bridge, External genital hypoplasia |
ORPHA:251056 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Hydrocele testis, Low hanging columella |
OMIM:619493 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Wi... |
OMIM:300260 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
ORPHA:93267 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Short nose, Convex nasal ridge, Delayed puberty |
ORPHA:3121 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Hypoplasia of penis |
ORPHA:2547 |
Trisomy 8Q |
|
Hypoplasia of penis, Cryptorchidism, Myelomeningocele, Wide nasal bridge, Displacement of the ure... |
ORPHA:1752 |
Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Patent foramen ovale, Facial cleft, Short neck |
OMIM:263650 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:261295 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Anteverted nares, Hypospadias, Underdeveloped nasal alae, Cryptorchidism, Wide nas... |
OMIM:613026 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micro... |
ORPHA:363659 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge, Prominent nose |
OMIM:614067 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Depressed nasal bridge, Prominent nasal bridge, Short nose |
OMIM:618828 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Cryptorchidism, Wide nasal b... |
ORPHA:404440 |
Charlie M Syndrome |
|
Wide nasal bridge |
ORPHA:1406 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Neonatal Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Anteverted nares, Wide nasal bridge |
ORPHA:44 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Umbilical hernia, Low hanging columella |
OMIM:616977 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short nose, Low hangi... |
OMIM:615803 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Bulbous nose, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:485405 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
Frank-Ter Haar Syndrome |
|
Umbilical hernia, Depressed nasal bridge, Wide nasal bridge |
ORPHA:137834 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614744 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Anteverted nares, Wide nasal bridge, Prominent nasolabial fold, Short columella, Umbilical hernia... |
OMIM:616266 |
Macrocephaly/Autism Syndrome |
|
Hydrocele testis, Short nose, Depressed nasal bridge, Penile freckling |
OMIM:605309 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Anteverted nares, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:616158 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Depressed nasal ridge |
OMIM:616854 |
Lig4 Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Type II diabetes mellitus, Hypothyroidism... |
ORPHA:99812 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:615760 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Elevated circulating parathy... |
ORPHA:439822 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Brachycephaly, Flat occiput, Exencephaly |
ORPHA:2211 |
Jung Syndrome |
|
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2321 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Small scrotum, Underdeveloped nasal alae, Long nose, Cryptorchidism, Wide nasal bridge |
ORPHA:1968 |
Scarf Syndrome |
|
Bifid scrotum, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Perineal hypospadias, H... |
OMIM:312830 |
Metaphyseal Acroscyphodysplasia |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:1240 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Prominent nasal bridge, Cryptorchidism, Micropenis, Hypoplastic labia majora, Shor... |
OMIM:614225 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge |
OMIM:617452 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge |
ORPHA:324581 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
8Q12 Microduplication Syndrome |
|
Wide nasal bridge |
ORPHA:228399 |
Waardenburg-Shah Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae, Abnormality of the nose |
ORPHA:897 |
Edinburgh Malformation Syndrome |
|
Short nose, Anteverted nares, Choanal atresia |
ORPHA:1895 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Wide nasal bridge |
OMIM:600906 |
Waardenburg Syndrome Type 1 |
|
Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, Short nose |
ORPHA:894 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618950 |
Alg2-Cdg |
|
Wide nasal bridge |
ORPHA:79326 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge |
OMIM:614078 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:93946 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone stimulation test, ... |
OMIM:615866 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Wide nasal bridge, Gonadal dysgenesis, male |
ORPHA:2075 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Short nose, Short nasal bridge, Convex na... |
ORPHA:2409 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Wide nasal bridge |
OMIM:613192 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, Neonatal death, Umbilical hernia |
OMIM:614052 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Broad columella, Low hangin... |
OMIM:619383 |
Martin-Probst Syndrome |
|
Bifid scrotum, Cryptorchidism, Wide nasal bridge, Chordee, Hypoplastic nipples, Umbilical hernia,... |
OMIM:300519 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Micropenis, Short nose, Decreased testicular size |
OMIM:614222 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Wide nasal bridge, Hypoplastic nasal tip |
ORPHA:3304 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614105 |
Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone stimulation test, ... |
OMIM:616835 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:261304 |
Joubert Syndrome 28 |
|
Wide nasal bridge |
OMIM:617121 |
Cantu Syndrome |
|
Umbilical hernia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:239850 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:253250 |
Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Short nose, Spina bifida occulta |
OMIM:193700 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose |
ORPHA:284169 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Wide nasal bridge |
OMIM:618342 |
Steel Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:615155 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Wide nasal bridge |
ORPHA:1278 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Convex nasal ridge |
ORPHA:2145 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:220220 |
Wiedemann-Steiner Syndrome |
|
Wide nose, Broad nasal tip, Cryptorchidism, Bulbous nose, Wide nasal bridge, Depressed nasal tip,... |
OMIM:605130 |
Temple-Baraitser Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thick nasal alae |
ORPHA:420561 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Depressed nasal ridge, Anteverted nares, Wide nasal bridge |
ORPHA:2412 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Bulbous nose, Wide nasal bridge, Prominent nose |
OMIM:606220 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose |
OMIM:300887 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae |
ORPHA:163961 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Long nose, Prominent nasal bridge, Wide nasal bridge, Hydrocele testis |
OMIM:137940 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Radio-Tartaglia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Precocious puberty, Bulbous nos... |
OMIM:619312 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide nasal bridge |
OMIM:614859 |
Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Decreased fertility, Type II diabetes mellitus, Um... |
ORPHA:870 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:618356 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Glandular hypospadias, Hypospadias, Wide nasal bridge, Shawl scrotum |
ORPHA:2575 |
Stickler Syndrome Type 1 |
|
Short nose |
ORPHA:90653 |
Distal Duplication 5Q |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Short... |
ORPHA:96097 |
Simosa Craniofacial Syndrome |
|
Long nose, Depressed nasal tip, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:182150 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge |
OMIM:309620 |
Deafness, X-Linked 7 |
|
Wide nasal bridge |
OMIM:301018 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Diabetes mellitus, Anteverted nares, Delayed puberty, Short nose, Hypothyroidism |
ORPHA:391408 |
Roifman-Chitayat Syndrome |
|
Umbilical hernia, Depressed nasal bridge, Wide nasal bridge |
OMIM:613328 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Wide nasal bridge |
OMIM:218000 |
Man1B1-Cdg |
|
Underdeveloped nasolabial fold, Wide nose, Wide nasal bridge, Prominent nose |
ORPHA:397941 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Short nose, Flared nostrils, Depressed nasal bridge |
OMIM:206920 |
Codas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Short nose |
ORPHA:1458 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Bifid scrotum, Hypospadias, Choanal atresia, Cryptorchidism, Penoscrotal transposi... |
OMIM:619148 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Micropenis, Umbilical hernia, Short nose |
OMIM:616331 |
Koolen-De Vries Syndrome |
|
Hypospadias, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wid... |
ORPHA:96169 |
Liang-Wang Syndrome |
|
Wide nasal bridge |
OMIM:618729 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Supernumerary ni... |
OMIM:618454 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short nose, Meningocele, Anteverted nares, Underdeveloped nasal alae |
ORPHA:2031 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Spina bifida occulta, Anteverted nares |
ORPHA:1185 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Precocious puberty, Wide nasal bridge, Delayed puberty,... |
ORPHA:819 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Hypospadias, Wide nasal bridge, Micropenis, Short nose |
OMIM:616897 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:1522 |
Waardenburg Syndrome, Type 2A |
|
Wide nasal bridge, Underdeveloped nasal alae |
OMIM:193510 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Prominent nose, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis, Co... |
OMIM:609625 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge |
ORPHA:168486 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge |
OMIM:618821 |
Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Wide nasal bridge, Mic... |
ORPHA:2282 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Wide nasal bridge, Congenital hypothyroidism |
OMIM:617930 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Reduced circulating grow... |
OMIM:616430 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge... |
OMIM:300000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge |
ORPHA:89844 |
Oculoskeletodental Syndrome |
|
Thick nasal alae, Depressed nasal bridge, Broad columella, Wide nasal bridge |
ORPHA:557003 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Short nose |
ORPHA:251071 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, M... |
ORPHA:280200 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Anteverted nares, Wide nasal bridge |
ORPHA:50812 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... |
ORPHA:261330 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Wide nasal bridge, Prominent nose |
OMIM:618205 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:601110 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
C Syndrome |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Clitoral hypertrophy |
OMIM:211750 |
Tetrasomy 18P |
|
Short nose |
ORPHA:3307 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613320 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Nasal congestion, Bony paranasal bossing, Abnormal nasopharynx morphology, Wide nasal bridge |
OMIM:218400 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Hypospadias, Wide nasal bridge |
ORPHA:66629 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Short nose, Hypoplastic male external genitalia, Underdeveloped nasal alae |
ORPHA:1234 |
Al-Gazali-Bakalinova Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:607131 |
Al-Raqad Syndrome |
|
Short nose |
OMIM:616459 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Short nose, Hy... |
ORPHA:1812 |
Focal Facial Dermal Dysplasia Type Iii |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:1807 |
Waardenburg Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Abnormali... |
ORPHA:3440 |
Pontocerebellar Hypoplasia, Type 7 |
|
Broad nasal tip, Cryptorchidism, Wide nasal bridge, Ambiguous genitalia, Micropenis |
OMIM:614969 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Diabetes insipidus, Wide nasal bridge |
OMIM:611087 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Broad nasal tip, Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal... |
OMIM:617746 |
Spinocerebellar Ataxia 47 |
|
Wide nasal bridge |
OMIM:617931 |
Ritscher-Schinzel Syndrome 4 |
|
Cryptorchidism, Micropenis, Wide nasal bridge |
OMIM:619435 |
Trisomy 12P |
|
Short nose, Wide nasal bridge, Supernumerary nipple |
ORPHA:1699 |
Macs Syndrome |
|
Umbilical hernia, Hypergonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism |
OMIM:613075 |
Trisomy 20P |
|
Hypospadias, Anteverted nares, Spina bifida, Cryptorchidism, Macroorchidism, Umbilical hernia, Sh... |
ORPHA:261318 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge |
OMIM:608776 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Bulbous nose, Depressed nasal bridge, Short nose |
OMIM:618430 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Wide nasal bridge, Hypothyroidism, Broad columella |
OMIM:618440 |
Axenfeld-Rieger Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge, Wide nasal bridge, Hyposp... |
ORPHA:782 |
Noonan Syndrome 13 |
|
Cryptorchidism, Anteverted nares, Wide nasal bridge |
OMIM:619087 |
Otopalatodigital Syndrome Type 1 |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:90650 |
Gomez-Lopez-Hernandez Syndrome |
|
Short nose, Anteverted nares, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Zellweger Syndrome |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Primary adrenal insufficiency, Wide nasal br... |
ORPHA:912 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:619320 |
9P13 Microdeletion Syndrome |
|
Anteverted nares, External genital hypoplasia, Precocious puberty, Wide nasal bridge, Umbilical h... |
ORPHA:324313 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Short nose |
OMIM:217980 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Wide nasal bridge |
OMIM:607906 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Anteverted nares, Cryptorchidism, Short nose, Abnormal testis morphology |
ORPHA:96147 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Wide nose, External genital hypoplasia, Prominent nasal bridge, Crypto... |
ORPHA:251028 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Anteverted nares, Decreased fertility |
OMIM:234050 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral crypt... |
OMIM:613457 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Depressed nasal bridge, Anteverted nare... |
OMIM:146510 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Long nose, Cryptorchidism, Short nose, Narrow nose |
OMIM:617602 |
Tetrasomy 12P |
|
Short nose, Anteverted nares |
ORPHA:884 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Enlarged naris, Prominent nasal bridge, Anteverted nares, Wide nasal bridge |
ORPHA:371364 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Low hanging columella, Wide nasal bridge, Broad nasal tip |
OMIM:620157 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Meningocele, Anencephaly, Wide nasal bridge, Spinal dysraphism |
ORPHA:1908 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Wide nasal bridge |
ORPHA:1865 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:163649 |
Cri-Du-Chat Syndrome |
|
Cryptorchidism, Hypospadias, Wide nasal bridge |
OMIM:123450 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Wide nasal bridge |
OMIM:182290 |
Histidinuria Due To A Renal Tubular Defect |
|
Wide nasal bridge |
OMIM:235830 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Central hypothyroidism,... |
OMIM:300998 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Underdeveloped nasal alae, Abnormal vagina m... |
ORPHA:2315 |
Peroxisome Biogenesis Disorder 2B |
|
Anteverted nares, Wide nasal bridge, Adrenal insufficiency |
OMIM:202370 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Secundum atrial septal defect |
ORPHA:2260 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Short nose, Short columella, Wide nasal bridge |
OMIM:613603 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Short nose |
OMIM:617061 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge |
ORPHA:2158 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Spina bifida occulta, Anteverted nares |
OMIM:617877 |
Distal Deletion 9P |
|
Hypoplastic labia majora, Short nose, Hypospadias, Wide nasal bridge |
ORPHA:1642 |
Cog5-Cdg |
|
Cryptorchidism, Micropenis, Wide nasal bridge, Prominent nose |
ORPHA:263487 |
16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:261236 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cryptorchidism, Micropenis, ... |
OMIM:619005 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Bicornuate uterus, Umbilical hernia, Short nose |
OMIM:222448 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, ... |
OMIM:257300 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Short nose, Stillbirth |
OMIM:269250 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose |
ORPHA:544503 |
Zechi-Ceide Syndrome |
|
Wide nose, Wide nasal bridge |
ORPHA:217017 |
Myoclonic-Astatic Epilepsy |
|
Thick nasal alae, Anteverted nares, Wide nasal bridge |
ORPHA:1942 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Micropenis, Shawl scrotum,... |
OMIM:301040 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Joubert Syndrome 3 |
|
Anteverted nares, Wide nasal bridge |
OMIM:608629 |
Hengel-Maroofian-Schols Syndrome |
|
Wide nasal bridge |
OMIM:619641 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Micropenis, Wide nasal bridge |
OMIM:615966 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Depressed nasal bridge, Prominent nose, Cryptorchidism, Bulbous nose, Wide nasal b... |
OMIM:300895 |
3C Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Wide nasal bridge, ... |
ORPHA:7 |
Peho Syndrome |
|
Short nose |
OMIM:260565 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose |
OMIM:615539 |
Lessel-Kreienkamp Syndrome |
|
Wide nasal bridge |
OMIM:619149 |
Chromosome 5P13 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Low hanging columella |
OMIM:613174 |
Arthrogryposis, Distal, Type 2B1 |
|
Prominent nasolabial fold, Wide nasal bridge |
OMIM:601680 |
Developmental And Epileptic Encephalopathy 89 |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic labia minora, Wide nasal bridge, Hypoplasti... |
OMIM:619124 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Hypoplas... |
OMIM:608156 |
X-Linked Intellectual Disability, Najm Type |
|
Wide nasal bridge |
ORPHA:163937 |
Atelosteogenesis, Type I |
|
Encephalocele, Depressed nasal bridge, Cryptorchidism, Stillbirth, Neonatal death, Short nose |
OMIM:108720 |
Waardenburg Syndrome, Type 3 |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:148820 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617102 |
Schimke Immunoosseous Dysplasia |
|
Depressed nasal bridge, Bilateral cryptorchidism, Bulbous nose, Elevated circulating thyroid-stim... |
OMIM:242900 |
B4Galt1-Cdg |
|
Hypothyroidism, Wide nasal bridge |
ORPHA:79332 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Choanal atresia, Wide nasal bridge |
ORPHA:2759 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Supernumerary nipple, Wide nasal bridge, Hypogonadism, Prominent nasal ti... |
ORPHA:261349 |
Al Kaissi Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Broad nasal tip |
OMIM:617694 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Hall-Riggs Syndrome |
|
Anteverted nares, Wide nasal bridge, Prominent nose |
ORPHA:2107 |
Rubinstein-Taybi Syndrome |
|
Cryptorchidism, Convex nasal ridge, Wide nasal bridge |
ORPHA:783 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:261337 |
Craniofrontonasal Syndrome |
|
Hypospadias, Bifid nasal tip, Cryptorchidism, Wide nasal bridge, Hypoplastic nasal tip, Shawl scr... |
OMIM:304110 |
Monosomy 18P |
|
Hypothyroidism, Wide nasal bridge |
ORPHA:1598 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Anteverted nares, Wide nasal bridge |
OMIM:616258 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Trichohepatoenteric Syndrome 2 |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:614602 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the male genitalia, Cholelithiasis, Wide nasal bridge, Prominent nose |
OMIM:614886 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Micropenis, Short nose |
OMIM:617822 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Short nose, Depressed nasal ridge |
OMIM:300863 |
16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose |
ORPHA:261211 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge |
OMIM:617802 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Familial Benign Copper Deficiency |
|
Wide nasal bridge |
ORPHA:1551 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Wide nasal bridge |
OMIM:620250 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
Ring Chromosome 10 Syndrome |
|
Wide nasal bridge |
ORPHA:1438 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Short columella, Wide nasal bridge, Enlarged naris |
ORPHA:562528 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short nose |
OMIM:614261 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Short nose |
OMIM:618087 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Anteverted nares, Wide nasal bridge |
OMIM:602562 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Depressed nasal bridge, Cryptorchidism, Shawl scrotum, Short nose, Breast hypoplasia |
OMIM:601353 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Wide nasal bridge |
OMIM:619179 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge |
OMIM:617333 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Anteverted nares, Wide nasal bridge, Hypospadias |
OMIM:611209 |
Braddock-Carey Syndrome 1 |
|
Anteverted nares, Wide nasal bridge |
OMIM:619980 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Depressed nasal bridge, Wide nasal bridge |
OMIM:614887 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Precocious puberty, Cryptorchidism, Wide nasal bridge, Aplasia/Hypoplasia of th... |
ORPHA:96092 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Ovarian cyst, U... |
OMIM:618188 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:614230 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Supernumerary nipple, Wide nasal bridge, Micropenis, Vaginal dryness, Bilateral choa... |
OMIM:106260 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, Wide nasal bridge |
OMIM:618804 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:2719 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Wide nasal bridge, Micropenis |
OMIM:235255 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bulbous nose, Anteverted nares, Wide nasal bridge |
OMIM:220500 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Cryptorchidism, Bulbous nose, Flared nostrils, Wide nasal bridge |
OMIM:616737 |
Prolidase Deficiency |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:170100 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Bulbous nose, Prominent nasal bridge, Spina bifida occulta, Wide nasal bridge |
OMIM:617360 |
Noonan Syndrome With Multiple Lentigines |
|
Hypospadias, Cryptorchidism, Decreased fertility, Wide nasal bridge, Spina bifida occulta |
ORPHA:500 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short nose, Depressed nasal bridge |
OMIM:619833 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Wide nasal bridge |
OMIM:247410 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Short nose, Convex nasal ridge |
OMIM:300661 |
3Mc Syndrome 2 |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Depressed nasal tip |
OMIM:265050 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Anteverted nares, Hypospadias, Supernumerary nipple, Cryptorchidism, Micrope... |
ORPHA:261494 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Clitoral... |
OMIM:616894 |
Barber-Say Syndrome |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Breast aplasia, Hypoplastic nipples, Shawl scr... |
ORPHA:1231 |
Distal Deletion 10Q |
|
Prominent nasal bridge, Prominent nose, Wide nasal bridge, Short nose, Spina bifida occulta |
ORPHA:96148 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose |
OMIM:256600 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Depressed nasal bridge, Thyroid lymphangiectasia, Cryptorchidism, Wide nasal bridge, Umbilical he... |
OMIM:235510 |
Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal stenosis, Choanal atresia, Short nose |
OMIM:101600 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Wide nasal bridge, Depressed nasa... |
OMIM:612651 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Wide nasal bridge |
ORPHA:1563 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wide nasal bridge |
ORPHA:2774 |
Trichorhinophalangeal Syndrome Type 2 |
|
Bulbous nose, Thick nasal alae, Wide nasal bridge |
ORPHA:502 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Prominent nose, Bulbous nose, Depressed nasal ridge, Micropenis, Short columella, Short nose |
OMIM:156200 |
Desbuquois Dysplasia 1 |
|
Short nose, Concave nasal ridge, Depressed nasal bridge |
OMIM:251450 |
Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:616920 |
Chromosome 9P Deletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypospadias, Wide nasal bridge, Microp... |
OMIM:158170 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Short nose, Anteverted nares, Wide nasal bridge, Broad nasal tip |
OMIM:618529 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Short nose, Recurrent upper respiratory tract infections |
ORPHA:3078 |
Pyruvate Dehydrogenase Deficiency |
|
Wide nasal bridge |
ORPHA:765 |
Marshall-Smith Syndrome |
|
Short nose, Anteverted nares, Choanal atresia |
ORPHA:561 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:222765 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Abnormal morphology of female internal genitalia, Choanal stenosis, Short nose |
ORPHA:1790 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Supernumerary nipple |
OMIM:620098 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Wide nasal bridge |
ORPHA:2518 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Anteverted nares, Supernumerary nipple, Cryptorchidism, Wide nasal bridge, Chordee |
OMIM:616728 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... |
OMIM:616580 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, External genital hypoplasia |
ORPHA:329178 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Prominent nose |
OMIM:201170 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Hypogonadism, Wide nasal bridge |
ORPHA:3253 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Long nose, Bulbous nose, Wide nasal bridge |
OMIM:613744 |
Zaki Syndrome |
|
Wide nose, Anteverted nares, Wide nasal bridge |
OMIM:619648 |
Non-Distal Deletion 10Q |
|
Wide nasal bridge |
ORPHA:1581 |
Deafness-Craniofacial Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:3241 |
Weiss-Kruszka Syndrome |
|
Short nose, Anteverted nares |
OMIM:618619 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Wide nasal bridge, Prominent nose |
ORPHA:1292 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short nose, Depressed nasal ridge |
ORPHA:163966 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Wide nasal bridge, Supernumerary nipple |
OMIM:614376 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:247200 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:618571 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Depressed nasal bridge, Hypospadias, Cryptorchidism, Wide nasal bridge, Hypoplasti... |
OMIM:615546 |
Sclerosteosis 1 |
|
Depressed nasal bridge, Wide nasal bridge, Irregular menstruation |
OMIM:269500 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... |
ORPHA:508488 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia, Wide nasal bridge |
OMIM:617952 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Flared nostrils, Wide nasal bridge, Micropenis |
OMIM:610954 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Meningocele, Aplasia of the uterus, Short nose |
ORPHA:2879 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Absent nipple, Depressed nasal bridge, Wide nasal bridge |
OMIM:104350 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Depressed nasal bridge, Choanal atresia, Aplasia of the thymus, Un... |
OMIM:620186 |
Rhombencephalosynapsis |
|
Short nose, Anteverted nares, Abnormality of the uterus |
ORPHA:59315 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Wide nasal bridge |
ORPHA:2008 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor... |
ORPHA:50810 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Wide nasal bridge, Hypoplasia of the uterus, Bicornuate uterus, Neonatal death |
OMIM:601186 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Wide nasal bridge |
ORPHA:3079 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:614080 |
Coffin-Siris Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Broad nasal tip, Cryptorchidism, Recurrent... |
ORPHA:1465 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Shawl scrotum, Umbilical hernia, Short... |
ORPHA:1519 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614749 |
Macrocephaly-Developmental Delay Syndrome |
|
Wide nasal bridge |
ORPHA:397612 |
Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:269880 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Small scrotum, Depressed nasal bridge, Anteverted nar... |
ORPHA:97360 |
Congenital Myopathy 22A, Classic |
|
Neonatal death, Wide nasal bridge |
OMIM:620351 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:615398 |
Cadds |
|
Short nose, Adrenal hypoplasia |
ORPHA:369942 |
Cenani-Lenz Syndrome |
|
Short nose, Hypothyroidism, Convex nasal ridge |
ORPHA:3258 |
Sialidosis Type 1 |
|
Wide nasal bridge |
ORPHA:812 |
Orofaciodigital Syndrome Xix |
|
Underdeveloped nasal alae, Bifid nasal tip, Wide nasal bridge, Short columella, Thick nasal alae |
OMIM:620107 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Anteverted nares, Wide nasal bridge, Broad nasal tip |
ORPHA:438216 |
Sheldon-Hall Syndrome |
|
Wide nasal bridge |
ORPHA:1147 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Anteverted nar... |
ORPHA:3107 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Stillbirth, Short nose |
OMIM:200600 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Stillbirth, Anteverted nares, Short nose |
OMIM:228520 |
Trisomy 18 |
|
Choanal atresia, Spina bifida, Cryptorchidism, Anencephaly, Short nose, Abnormal morphology of fe... |
ORPHA:3380 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Cryptorchidism, Annular pancreas, Clitoral... |
OMIM:147791 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Bulbo... |
OMIM:300968 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge |
OMIM:620070 |
Tetrasomy 5P |
|
Short nose, Anteverted nares, Wide nasal bridge |
ORPHA:3309 |
Lathosterolosis |
|
Hypoplasia of penis, Anteverted nares, Bulbous nose, Meningocele, Short nose |
ORPHA:46059 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Long nose, Wide nasal bridge |
OMIM:617146 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose |
ORPHA:560 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short nose |
OMIM:615851 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... |
ORPHA:177907 |
Fryns Syndrome |
|
Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge, Bicornuate uterus |
ORPHA:2059 |
Mandibulofacial Dysostosis With Alopecia |
|
Wide nasal bridge |
OMIM:616367 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares |
OMIM:613735 |
Chops Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares |
OMIM:616368 |
Antley-Bixler Syndrome |
|
Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
Neuhauser Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Primary hypothyroidism |
OMIM:249310 |
Humeroradial Synostosis |
|
Wide nasal bridge |
OMIM:236400 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:314655 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose |
ORPHA:79113 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:239300 |
Sialuria |
|
Cholelithiasis, Wide nasal bridge |
ORPHA:3166 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:614701 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617988 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Broad nasal tip |
OMIM:300749 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Narrow nasal tip, Supernumerary nipple, Cryptorchidism, Wide nasal... |
ORPHA:477993 |
Omodysplasia 1 |
|
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Umbilical hernia, Short nose |
OMIM:258315 |
Malan Syndrome |
|
Short nose |
OMIM:614753 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:614207 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Cryptorchidism, Shawl scrotum, Short nose |
OMIM:227330 |
Osteoglophonic Dysplasia |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypospadias, Cryptorchidism, Nasal con... |
OMIM:166250 |
Fetal Alcohol Syndrome |
|
Short nose, Anteverted nares |
ORPHA:1915 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Short nose |
OMIM:608022 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Abnormality of ... |
ORPHA:2637 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Wide nasal base, Depressed nasal bridge, Wide nasal bridge |
ORPHA:397709 |
Trichothiodystrophy 1, Photosensitive |
|
Short nose, Hypogonadism |
OMIM:601675 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:608013 |
Hamamy Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Anteverted nares, Wide nasal bridge |
OMIM:611174 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Micropeni... |
OMIM:618820 |
Craniolenticulosutural Dysplasia |
|
Cryptorchidism, Prominent nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:607812 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Prominent nasolabial fold, Short nose |
ORPHA:2953 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Broad nasal tip |
OMIM:618106 |
Poikiloderma With Neutropenia |
|
Short nose, Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae |
OMIM:604173 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Hypoplastic male external gen... |
OMIM:605627 |
Perlman Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge, Pancreatic islet-cell hyperplasia |
OMIM:267000 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge... |
ORPHA:2745 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:250989 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short nose, Hypothyroidism, Wide nasal bridge |
OMIM:618005 |
Insulin-Like Growth Factor I, Resistance To |
|
Increased circulating insulin-like growth factor 1 concentration, Diabetes mellitus, Wide nasal b... |
OMIM:270450 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Umbilical hernia, Wide nasal... |
OMIM:601358 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bulbous nose, Prominent nasal bridge, Wide nasal bridge, Supernumerary nipple |
ORPHA:247262 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Bulbous n... |
ORPHA:488632 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal bridge, Aplasia of the vagina |
OMIM:193500 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Short nose, Depressed nasal bridge |
OMIM:618590 |
Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Umbilical hernia |
OMIM:607014 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Wide nasal bridge, Secondary hyperparathyroidism |
OMIM:277440 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short nose, Anteverted nares, Choanal atresia |
OMIM:610536 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Short nose, Anteverted nares |
OMIM:219200 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge,... |
ORPHA:1507 |
Holoprosencephaly 7 |
|
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge |
ORPHA:93258 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Short nose, Hyperinsulinemia, Narrow nasal ridge |
OMIM:608612 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Cleft ala nasi, Depressed nasal bridge, Small scrotum, Hyposp... |
ORPHA:2052 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Hypoplas... |
OMIM:268310 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Broad nasal tip, Depressed nasal ridge, Nasal congestion, Short columella, Short nose, Thick nasa... |
ORPHA:79345 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:1340 |
Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares, Glandular hypospadias |
ORPHA:1358 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Otopalatodigital Syndrome, Type I |
|
Short nose, Wide nasal bridge |
OMIM:311300 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Wide nasal bridge, Hyperechogenic... |
OMIM:605039 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Bulbous nose, Shor... |
OMIM:614114 |
Tarp Syndrome |
|
Neonatal death, Anteverted nares, Wide nasal bridge |
OMIM:311900 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Ambiguous genitalia, female, Ambiguous genitalia, mal... |
OMIM:602398 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Prominent nose, Long nose, Wide nasal bridge, Depressed nasal tip, Short columella |
ORPHA:2995 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Umbili... |
ORPHA:2710 |
Sialuria |
|
Hypoplastic nipples, Wide nasal bridge |
OMIM:269921 |
Desmosterolosis |
|
Ambiguous genitalia, Short nose, Depressed nasal bridge, Abnormality of the nose |
ORPHA:35107 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Prominent nasal bridge, Hypogonadism, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:163746 |
Van Esch-O'Driscoll Syndrome |
|
Short nose, Spina bifida occulta, Depressed nasal bridge, Hypogonadotropic hypogonadism |
OMIM:301030 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:357001 |
Jacobsen Syndrome |
|
Anteverted nares, Spina bifida, Cryptorchidism, Annular pancreas, Wide nasal bridge, Short nose, ... |
ORPHA:2308 |
Stromme Syndrome |
|
Prominent nasal bridge, Stillbirth, Short columella, Wide nasal bridge |
OMIM:243605 |
Marshall-Smith Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Bilateral cryptorchidism, Cryptorchidi... |
OMIM:602535 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Wide nasal bridge |
ORPHA:2780 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Noonan Syndrome 3 |
|
Cryptorchidism, Hypoplastic nasal bridge, Anteverted nares, Short nose |
OMIM:609942 |
Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Bulbous nose, Wide nasal bri... |
OMIM:613458 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Hypospadias, Wide nasal bridge, Hydrocele testis, Narro... |
ORPHA:1449 |
Monosomy 9P |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Choanal atresia, Cryptorchidism, Ambiguous... |
ORPHA:261112 |
Cantú Syndrome |
|
Umbilical hernia, Anteverted nares, Wide nasal bridge |
ORPHA:1517 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas... |
OMIM:616007 |
Rabin-Pappas Syndrome |
|
Low hanging columella, Wide nasal bridge, Broad nasal tip |
OMIM:620155 |
3Q29 Microdeletion Syndrome |
|
Short nose, Hypospadias, Prominent nasal bridge |
ORPHA:65286 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic nipples, Umbilical hernia, Short nose, Brea... |
OMIM:230740 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Prominent nasal bridge, Elevated circulating thyroid-stimulating hormo... |
OMIM:601812 |
Geleophysic Dysplasia 3 |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:617809 |
Short Syndrome |
|
Diabetes mellitus, Wide nasal bridge |
ORPHA:3163 |
Pontocerebellar Hypoplasia Type 7 |
|
Depressed nasal bridge, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Gonadal dys... |
ORPHA:284339 |
Ogden Syndrome |
|
Depressed nasal bridge, Maternal diabetes, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchi... |
OMIM:300855 |
Lathosterolosis |
|
Anteverted nares, Bilobate gallbladder, Myelomeningocele, Wide nasal bridge, Ambiguous genitalia,... |
OMIM:607330 |
Pfeiffer Syndrome |
|
Wide nasal bridge |
ORPHA:710 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Wide nasal bridge |
ORPHA:2479 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Short columella, Short nose |
ORPHA:364577 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Umbilical hernia |
ORPHA:221139 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Decreased response ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Decreased response ... |
ORPHA:363958 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Depressed nasal bridge, Hypospadias, Myelomeningocele, Short nose |
ORPHA:90652 |
Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Cryptorchidism, Annular pancreas, Hypogonadism, Short nose |
OMIM:268400 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Anteverted nares, Wide nasal bridge |
ORPHA:444072 |
Pfeiffer Syndrome Type 2 |
|
Short nose, Depressed nasal bridge, Choanal atresia |
ORPHA:93259 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Anteverted nares, Hypospadias, Epispadias, Short nose |
ORPHA:3339 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:619004 |
Orofaciodigital Syndrome Type 4 |
|
Wide nose, Monorchism, Choanal atresia, Depressed nasal ridge, Primary adrenal insufficiency, Per... |
ORPHA:2753 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Peho Syndrome |
|
Short nose, Anteverted nares |
ORPHA:2836 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor... |
OMIM:618332 |
Acrocallosal Syndrome |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Micropenis, Rectovaginal fistula, Umbilical herni... |
OMIM:200990 |
Dend Syndrome |
|
Short nose, Anteverted nares |
ORPHA:79134 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Recurrent upper respiratory tract infec... |
ORPHA:264450 |
Dubowitz Syndrome |
|
Hypospadias, Prominent nasal bridge, Broad nasal tip, Cryptorchidism, Wide nasal bridge |
OMIM:223370 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Depressed nasal bridge, Anteverted nares, Hypospadi... |
ORPHA:96176 |
Rauch-Steindl Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:619695 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short nose, Depressed nasal bridge |
OMIM:616723 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Prominent nasolabial fold, Anteverted nares, Short nose, Broad nasal tip |
ORPHA:357074 |
Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Hypospadias, Wide nasal bridge, Absence of pubertal development |
ORPHA:314679 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Thyroid carcinoma, Short nose, Hashi... |
ORPHA:109 |
Adult Syndrome |
|
Absent nipple, Prominent nasal bridge, Wide nasal bridge, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:611717 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Mosaic Trisomy 1 |
|
Micropenis, Penile hypospadias, Depressed nasal bridge, Wide nasal bridge |
ORPHA:1692 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short nose, Convex nasal ridge, Delayed puberty |
ORPHA:90154 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Convex nasal ridge, Micropenis, Hypoplasia of the ovary, Short nose, Decreased testicular size |
OMIM:619321 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Supernumerary nipple |
ORPHA:457279 |
Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Choanal stenosis, Neonatal death, Short nose |
OMIM:259775 |
Hennekam-Beemer Syndrome |
|
Long nose, Wide nose, Wide nasal bridge |
ORPHA:2135 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Broad... |
ORPHA:268261 |
Pfeiffer Syndrome Type 3 |
|
Short nose, Depressed nasal bridge, Choanal atresia |
ORPHA:93260 |
Alg9-Cdg |
|
Depressed nasal bridge, Underdeveloped nasal alae, Low insertion of columella, Bicornuate uterus,... |
ORPHA:79328 |
Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplastic labia majora, Short nose, Clitoral hypertrophy |
OMIM:244450 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Supernumerary... |
OMIM:213980 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Anteverted nares, Hypospadias, Cryptorchidism, Wide nas... |
OMIM:229850 |
Branchio-Oculo-Facial Syndrome |
|
Wide nasal bridge, Broad nasal tip |
ORPHA:1297 |
Faciocardiorenal Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:1973 |
Phelan-Mcdermid Syndrome |
|
Bulbous nose, Concave nasal ridge, Wide nasal bridge |
OMIM:606232 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Wide nose, Anteverted nares, Hypospadias, Bifid nasal tip, Bilateral cryptorchidis... |
OMIM:211380 |
Momo Syndrome |
|
Wide nasal bridge |
OMIM:157980 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Depressed nasal bridge, Anteverted nares, Hypospa... |
OMIM:269150 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nose, Wide nasal bridge |
OMIM:617303 |
Cardiofaciocutaneous Syndrome 1 |
|
Bulbous nose, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:115150 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Short nose, Anteverted nares |
OMIM:612394 |
Kosaki Overgrowth Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:616592 |
Aymé-Gripp Syndrome |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Breast hypoplasia |
ORPHA:1272 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Anteverted nares, Prominent nose, Broad nasal tip, Precocious puberty, Bulbous nose, Wide nasal b... |
OMIM:619950 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Bulbous nose, Wide nasal bridge, Narrow naris, Micropenis |
OMIM:617403 |
Cartilage-Hair Hypoplasia |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge, Spinal dysrap... |
ORPHA:175 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short nose |
ORPHA:363417 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long nose, Bulbous nose, Short nose |
ORPHA:508533 |
Tarp Syndrome |
|
Cryptorchidism, Anteverted nares, Wide nasal bridge |
ORPHA:2886 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Anteverted nares, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide na... |
ORPHA:373 |
Cohen-Gibson Syndrome |
|
Umbilical hernia, Depressed nasal bridge, Wide nasal bridge, Cryptorchidism |
OMIM:617561 |
Frontometaphyseal Dysplasia 2 |
|
Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Delayed puberty |
OMIM:617137 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:258480 |
Andersen-Tawil Syndrome |
|
Bulbous nose, Hyperaldosteronism, Wide nasal bridge |
ORPHA:37553 |
Developmental And Epileptic Encephalopathy 80 |
|
Wide nasal bridge |
OMIM:618580 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:186500 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Short nose, Narrow nose, Low ha... |
OMIM:164200 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Anteverted nares, Cryptorchidism, Wide nasal bridge, Ambiguous genitalia, Micropenis |
OMIM:617641 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Microphallus |
ORPHA:468631 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Umbilical hernia, Wide nasal bridge, Prominent nose |
OMIM:618971 |
Piebaldism |
|
Wide nasal bridge |
ORPHA:2884 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short nose |
ORPHA:1394 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Hypospadias, Broad nasal tip, Cryptorchidism, Bulbous nose, Micropenis, S... |
OMIM:309590 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... |
OMIM:229400 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Micropenis, Hypoplas... |
OMIM:180700 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Short nose, Prominent nasal bridge |
ORPHA:1225 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Wide nose, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, U... |
OMIM:613406 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Congenital hypothyroidism, Short nose |
OMIM:271510 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Hypospadias, Broad nasal tip, Long nose, Cryptorchidism, Bulbous nose, Wide nas... |
OMIM:619522 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, Ap... |
ORPHA:672 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Wide nasal bridge |
OMIM:601390 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:154780 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Hypogonadism,... |
ORPHA:536471 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose |
OMIM:252160 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent upper respiratory tract infections, Wide nasal bridge, Narrow nose |
OMIM:233600 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Patent urachus, Apla... |
OMIM:618280 |
Arthrogryposis Multiplex Congenita 5 |
|
Umbilical hernia, Prominent nasolabial fold, Anteverted nares, Wide nasal bridge |
OMIM:618947 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Prominent nasal bridge, Choanal atresia, Spina ... |
ORPHA:567 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Rectovaginal fistula, Short ... |
OMIM:619426 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Micropenis, Clitoral hypoplasia, S... |
OMIM:609945 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Wide nasal bridge |
ORPHA:2314 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Short nose |
OMIM:608779 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Spina bifida, Prominent nose, Bilateral cryptorchidism, Cryptorchidism, Premature th... |
OMIM:180849 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Cryptorchidism, Wide nasal bridge, Supernumerary nipple, Broad nasal tip |
OMIM:619194 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thic... |
OMIM:614609 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Depressed nasal bridge, Hypospadias, Wide nasal bridge, Small pituitary gland, Micropenis |
OMIM:619479 |
Monosomy 9Q22.3 |
|
Umbilical hernia, Short nose, Ovarian fibroma |
ORPHA:77301 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian carcinoma, Ovarian fibroma, Wide nasal bridge, Spina bifida |
OMIM:109400 |
Acromesomelic Dysplasia 4 |
|
Umbilical hernia, Wide nasal bridge |
OMIM:619636 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Depressed nasal bridge, Absent nipple, Cryptorchidism, Micropenis, Hypoplastic lab... |
OMIM:612289 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Short nose, Anteverted nares, Prominent nasal bridge, Shawl scrotum |
ORPHA:1974 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Depressed nasal bridge, Wide nasal bridge, Primary amenorrhea |
OMIM:619418 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Hypoplasia of the thymus, Wide nasa... |
OMIM:612541 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Thick nasal alae, Wide nasal bridge |
OMIM:618727 |
Hurler Syndrome |
|
Depressed nasal bridge, Rhinitis, Anteverted nares, Wide nasal bridge |
ORPHA:93473 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Hydrocele testis, Hypoplastic nipples, Umbilical hernia |
OMIM:280000 |
Carpenter Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Supernumerary nipple, Bilateral cryptorchidism, Cryptor... |
OMIM:614976 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydrocele testis, Short nose, Anteverted nares |
ORPHA:280633 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Depressed nasal bridge, Wide nasal bridge |
ORPHA:369837 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Bulbous nose, Wide nasal bridge, Bicornuate uterus, Labial hypoplasia, Clitoral hypertrophy |
ORPHA:140952 |
Toriello-Carey Syndrome |
|
Cryptorchidism, Short nose |
ORPHA:3338 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Depressed nasal bridge, Hypospadias, Cryptorchidism, Wide nasal bridge |
OMIM:616734 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Short nose, Congenital hypothyroidism |
OMIM:617527 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Wide nasal bridge |
OMIM:618569 |
Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Broad nasal tip, Cryptor... |
OMIM:615873 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Wide nasal bridge |
ORPHA:1352 |
Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Anteverted nares, Short nose, Low hanging columella |
OMIM:601559 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Wide nasal bridge, Congenital hypothyroidism |
ORPHA:521445 |
Goldberg-Shprintzen Syndrome |
|
Bulbous nose, Prominent nasal bridge, Wide nasal bridge |
OMIM:609460 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia of the eccr... |
OMIM:305100 |
Mucopolysaccharidosis, Type X |
|
Wide nasal bridge |
OMIM:619698 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Disproportionate short-limb short stature, Facial cleft |
ORPHA:93271 |
17Q24.2 Microdeletion Syndrome |
|
Secondary amenorrhea, Wide nasal bridge, Decreased response to growth hormone stimulation test, P... |
ORPHA:529962 |
Leukocyte Adhesion Deficiency Type Ii |
|
Umbilical hernia, Depressed nasal bridge, Depressed nasal ridge, Wide nasal bridge |
ORPHA:99843 |
Aspartylglucosaminuria |
|
Macroorchidism, Umbilical hernia, Short nose, Wide nasal bridge |
ORPHA:93 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Congenital Myopathy 22B, Severe Fetal |
|
Short nose, Wide nasal bridge |
OMIM:620369 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Increased size of nasopharyngeal adenoids, Short nose |
ORPHA:457395 |
Neonatal Marfan Syndrome |
|
Decreased testicular size, Wide nasal bridge |
ORPHA:284979 |
Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:265300 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Wide nasal bridge |
ORPHA:572798 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:2062 |
Léri-Weill Dyschondrosteosis |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:240 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short nose |
ORPHA:476126 |
Trisomy 10P |
|
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the nose, Rectovagin... |
ORPHA:171929 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Adrenal insufficiency |
OMIM:614863 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Wide nasal bridge |
OMIM:615560 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Wide nose, Hypospadias, Epispadias, Male pseudohermaphroditism, Wide n... |
ORPHA:2556 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Broad nasal tip, Annular pancreas, Central hypothyroidism, Micropenis,... |
ORPHA:798 |
Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Pancreatic cysts, Myelomeningocele, Wide nasal bridge, Ovarian cyst |
OMIM:311200 |
3Q29 Microduplication Syndrome |
|
Wide nasal bridge |
ORPHA:251038 |
Teebi-Shaltout Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Broad nasal tip |
OMIM:272950 |
Wiedemann-Steiner Syndrome |
|
Short nose, Wide nasal bridge, Decreased response to growth hormone stimulation test |
ORPHA:319182 |
Peroxisome Biogenesis Disorder 1B |
|
Convex nasal ridge, Wide nasal bridge |
OMIM:601539 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Anencepha... |
ORPHA:2369 |
Duane Retraction Syndrome |
|
Spina bifida occulta, Anteverted nares, Wide nasal bridge |
ORPHA:233 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Wide nasal bridge, Depressed nasal tip |
OMIM:619306 |
Okur-Chung Neurodevelopmental Syndrome |
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Umbilical hernia, Anteverted nares, Wide nasal bridge |
OMIM:617062 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Wide nasal bridge, Aplasia of the uterus, Depressed nasal tip |
OMIM:614083 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Anteverted nares, Choanal atresia, Hypospadias, Cryptorchidism, Wide nasal b... |
ORPHA:818 |
Zimmermann-Laband Syndrome 1 |
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Broad nasal tip, Long penis, Wide nasal bridge, Umbilical hernia, Spina bifida occulta |
OMIM:135500 |
Penile Agenesis |
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Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Absent penis, Ambiguous genitalia, Sho... |
ORPHA:49 |
Hajdu-Cheney Syndrome |
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Wide nose, Anteverted nares, Hypospadias, Wide nasal bridge, Delayed puberty, Umbilical hernia |
ORPHA:955 |
Renpenning Syndrome 1 |
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Hypospadias, Phimosis, Bulbous nose, Wide nasal bridge, Decreased testicular size, Low hanging co... |
OMIM:309500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Underdeveloped nasal alae, Biliary hyperplasia, Cryptorchidism, Wide nasal bridge, Choanal stenos... |
ORPHA:83617 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Pseudohypoparathyro... |
OMIM:617157 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Depressed nasal bridge, Anteverted nares, Septate vagina, Hypospadi... |
OMIM:270400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Umbilical hernia, Short nose, Short columella, Cryptorchidism |
OMIM:601776 |
Acrocephalopolydactylous Dysplasia |
|
Short nose, Pancreatic fibrosis |
OMIM:200995 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Broad nasal tip |
ORPHA:466943 |
Plaa-Associated Neurodevelopmental Disorder |
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Short nose |
ORPHA:521426 |
Ctcf-Related Neurodevelopmental Disorder |
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Anteverted nares, Broad nasal tip, Phimosis, Cryptorchidism, Hypoplastic labia majora, Short colu... |
ORPHA:363611 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Small scrotum, Depressed nasal bridge, Anteverted nares, Hypospadias, Triangular nasal tip, Crypt... |
OMIM:309580 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Umbilical hernia, Hypoplasia of the thymus, Wide nasal bridge, Adrenal hypoplasia |
OMIM:613177 |
Genitopatellar Syndrome |
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Wide nose, Small scrotum, Prominent nasal bridge, Enlarged labia minora, Prominent nose, Cryptorc... |
OMIM:606170 |
Hereditary Orotic Aciduria |
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Wide nasal bridge |
ORPHA:30 |
Maternal Phenylketonuria |
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Deviated nasal septum, Anteverted nares, Wide nasal bridge |
ORPHA:2209 |
C Syndrome |
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Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short nose, Female pseudohermaphroditism |
ORPHA:1308 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:536467 |
Peters Plus Syndrome |
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Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Congenital hypothyroidism,... |
ORPHA:709 |
Bohring-Opitz Syndrome |
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Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Cardiospondylocarpofacial Syndrome |
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Anteverted nares, Bulbous nose, Wide nasal bridge, Hypoplastic nasal tip, Decreased testicular size |
OMIM:157800 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... |
ORPHA:99826 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Hypospadias, Abnormality of the endocrine system, Bulbous nose, Flared nostrils, Wide nasal bridge |
ORPHA:487796 |
Femoral-Facial Syndrome |
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Maternal diabetes, Underdeveloped nasal alae, Cryptorchidism, Micropenis, Hypoplastic labia major... |
OMIM:134780 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypospadias, Cryp... |
ORPHA:199 |
15Q Overgrowth Syndrome |
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Wide nasal bridge |
ORPHA:314585 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Depressed nasal bridge, Hypospadias, Cryptorchidism, Depressed nasal ridge, ... |
ORPHA:1606 |
Blomstrand Lethal Chondrodysplasia |
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Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:50945 |
Degcags Syndrome |
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Anteverted nares, Prominent nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Rhinitis, ... |
OMIM:619488 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Wide nose, Depressed nasal bridge, Anteverted nares, External genital hypoplasia, Large placenta,... |
ORPHA:96334 |
Oculoectodermal Syndrome |
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Depressed nasal bridge, Wide nasal bridge, Supernumerary nipple, Pineal cyst |
OMIM:600268 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hypospadias, Wide nasal bridge, Spina bifida |
ORPHA:508498 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Prominent nasal tip, Short nose |
ORPHA:522077 |
Frontometaphyseal Dysplasia 1 |
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Wide nasal bridge |
OMIM:305620 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus, Wide nasal bridge, Spina bifida, Broad nasal tip |
OMIM:619480 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bifid scrotum, Anteverted nares, Hypospadias, Bulbous nose, Wide nasal bridge, Depressed nasal ti... |
OMIM:619475 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Pancreatic cysts, Umbilical hernia, Depressed nasal bridge, Wide nasal bridge |
OMIM:266920 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
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Underdeveloped nasal alae, Wide nasal bridge, Prominent nose |
ORPHA:90024 |
Wolf-Hirschhorn Syndrome |
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Cryptorchidism, Hypospadias, Wide nasal bridge |
ORPHA:280 |
Arterial Tortuosity Syndrome |
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Short nose |
ORPHA:3342 |
Osteopathia Striata With Cranial Sclerosis |
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Spina bifida occulta, Wide nasal bridge |
OMIM:300373 |
Acromesomelic Dysplasia 1 |
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Short nose |
OMIM:602875 |
Hermansky-Pudlak Syndrome 2 |
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Wide nasal bridge |
OMIM:608233 |
Coffin-Lowry Syndrome |
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Wide nose, Anteverted nares, Thick nasal septum, Uterine prolapse, Short nose, Thick nasal alae, ... |
OMIM:303600 |
Branchiooculofacial Syndrome |
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Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... |
OMIM:113620 |
Ayme-Gripp Syndrome |
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Short nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:601088 |
Doors Syndrome |
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Adrenal hyperplasia, Anteverted nares, Broad nasal tip, Bulbous nose, Wide nasal bridge, Sirenome... |
ORPHA:79500 |
Mullegama-Klein-Martinez Syndrome |
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Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Prominent nose |
OMIM:301022 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short nose |
ORPHA:505248 |
Okamoto Syndrome |
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Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Bifid uterus, Wide nasal bri... |
ORPHA:2729 |
1P21.3 Microdeletion Syndrome |
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Short nose, Broad nasal tip |
ORPHA:293948 |
Zttk Syndrome |
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Absent gallbladder, Short nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:617140 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Small scrotum, Broad nasal tip, Wide nasal bridge, Umbilical hernia, Prominent nasal tip, Short nose |
OMIM:620330 |
Orofaciodigital Syndrome Type 1 |
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Pancreatic cysts, Choanal atresia, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:2750 |
Hellp Syndrome |
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Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Feingold Syndrome 1 |
|
Annular pancreas, Anteverted nares, Wide nasal bridge, Depressed nasal tip |
OMIM:164280 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Anteriorly displaced genitalia, Hy... |
OMIM:276820 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Underdeveloped nasal alae, Cryptorchidism, Frontal encephaloc... |
OMIM:268300 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short nose, Anteverted nares, Broad nasal tip |
OMIM:272460 |
Khan-Khan-Katsanis Syndrome |
|
Short nose |
OMIM:618460 |
Geleophysic Dysplasia 1 |
|
Short nose, Anteverted nares |
OMIM:231050 |
Geleophysic Dysplasia 2 |
|
Short nose |
OMIM:614185 |
Shprintzen Omphalocele Syndrome |
|
Short columella, Flared nostrils, Wide nasal bridge |
OMIM:182210 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nose, Recurrent upper respiratory tract infections, Wide nasal bridge, Increased size of nas... |
ORPHA:217085 |
Sponastrime Dysplasia |
|
Wide nose, Aplasia of the nasal bone, Anteverted nares, Depressed nasal bridge, Hypospadias, Prec... |
ORPHA:93357 |
Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Short nose,... |
ORPHA:444077 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nose, Recurrent upper respiratory tract infections, Wide nasal bridge, Increased size of nas... |
ORPHA:217093 |
Frontometaphyseal Dysplasia |
|
Spina bifida occulta, Wide nasal bridge |
ORPHA:1826 |
Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Wide nasal bridge |
ORPHA:84064 |
Kabuki Syndrome 1 |
|
Premature thelarche, Cryptorchidism, Wide nasal bridge, Depressed nasal tip, Congenital hypothyro... |
OMIM:147920 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Depressed nasal bridge, Choanal atresia, Prominent nose, Abnormal circulating thyroid hormone con... |
ORPHA:480880 |
Wrinkly Skin Syndrome |
|
Umbilical hernia, Wide nasal bridge, Cryptorchidism |
OMIM:278250 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Wide nasal bridge, Aplasia of the uterus, Convex... |
OMIM:194190 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Anteverted nares, Wide nasal bridge |
ORPHA:2526 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Short nose, Anteverted nares, Choanal atresia, Narrow nose |
OMIM:301044 |
Mucopolysaccharidosis Type 2 |
|
Umbilical hernia, Wide nose, Recurrent upper respiratory tract infections, Wide nasal bridge |
ORPHA:580 |
Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge |
ORPHA:989 |
Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge |
OMIM:201180 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide... |
OMIM:312870 |
Hennekam Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:2136 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Wide nasal bridge, Supernumerary nipple |
ORPHA:1071 |
Cranioectodermal Dysplasia 2 |
|
Bile duct proliferation, Depressed nasal bridge, Wide nasal bridge |
OMIM:613610 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cholelithiasis, Precocious puberty, Cryptorch... |
ORPHA:904 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:447997 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma |
ORPHA:805 |
Primrose Syndrome |
|
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Hypergonadotropic hypogonadism, Broa... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Depressed nasal bridge, Hypospadias, Cryptorchidism, Depressed nasal... |
OMIM:607872 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide nasal bridge, Prominent na... |
OMIM:235730 |
Yellow Fever |
|
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prominent nose, Cr... |
OMIM:619503 |
Monosomy 22Q13.3 |
|
Umbilical hernia, Bulbous nose, Wide nasal bridge |
ORPHA:48652 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Prominent nose, Bilateral cryptorchidism, Bulbous nose, Recurrent upper respiratory tract infecti... |
OMIM:150230 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Wide nasal bridge, Hypospadias |
ORPHA:124 |
Cleidocranial Dysplasia 1 |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:119600 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Wide nasal bridge |
OMIM:619714 |
Cranioectodermal Dysplasia 1 |
|
Anteverted nares, Wide nasal bridge |
OMIM:218330 |
Monosomy 13Q14 |
|
Prominent nasal bridge, Wide nasal bridge |
ORPHA:1587 |
15q26 overgrowth syndrome |
|
Bulbous nose, Wide nasal bridge, Prominent nose |
DECIPHER:81 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Short nose, Enlarged naris |
OMIM:271665 |
Craniotubular Dysplasia, Ikegawa Type |
|
Anteverted nares, Wide nasal bridge |
OMIM:619727 |
Stickler Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
ORPHA:828 |
Orofaciodigital Syndrome Type 2 |
|
Wide nasal bridge, Hypoplastic male external genitalia |
ORPHA:2751 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Wide nasal bridge |
OMIM:130070 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micropenis, Early o... |
OMIM:194050 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypospadias, Wide nasal bridge, Decreased response to growth hormone stimulation test |
OMIM:180500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Short nose, Depressed nasal bridge, Wide nasal bridge |
ORPHA:500150 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Septate vagina, Webbed penis, Cryptorchidism, Wide nasal bridge, Depr... |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Hypospadias, Supernumerary nipple, Crypt... |
OMIM:601803 |
Keutel Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Cartilaginous ossification of nose |
OMIM:245150 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Short nose, Narrow nasal ridge |
OMIM:606721 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Anteverted nares, Wide nasal bridge, Hypospadias |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Wide nasal bridge |
OMIM:300896 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Wide nasal bridge, Depressed nasal ti... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Wide nasal bridge, Depressed nasal ti... |
ORPHA:261552 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... |
ORPHA:286 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypoplastic sweat glands, Wide nasal bridge |
ORPHA:73223 |
Cog1-Cdg |
|
Wide nasal bridge |
ORPHA:263508 |