Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... |
ORPHA:280397 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... |
ORPHA:412066 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Facial cleft, Anterior encephalocele, Holoprosencephaly |
OMIM:601357 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking |
OMIM:619191 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Testicular atrophy |
OMIM:601163 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Triopia |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Huntington Disease-Like 2 |
|
Apathy, Bradykinesia, Depression, Anxiety, Irritability, Dementia |
OMIM:606438 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
OMIM:209970 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:2007 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Hypospadias, Short nose, Depressed nasal ridge |
ORPHA:1355 |
Chromosome 18P Deletion Syndrome |
|
Micropenis, Gonadal dysgenesis, Decreased testicular size, Anteverted nares, Cryptorchidism, Wide... |
OMIM:146390 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Anxiety, Bradykinesia, Dementia |
OMIM:605909 |
3Q13 Microdeletion Syndrome |
|
Anteverted nares, Cryptorchidism, Hypoplasia of penis, Wide nasal bridge |
ORPHA:1621 |
Deafness, X-Linked 7 |
|
Wide nasal bridge |
OMIM:301018 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Wide nasal bridge |
ORPHA:2229 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Short nose, Delayed puberty |
ORPHA:217340 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Broad nasal tip, Wide nasal bridge |
OMIM:600093 |
Steel Syndrome |
|
Wide nasal bridge |
OMIM:615155 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Broad nasal tip, Thick nasal alae, Wide nasal bridge |
OMIM:618147 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Anxiety, Bradykinesia |
OMIM:618878 |
Trisomy 18-Like Syndrome |
|
Wide nasal bridge |
OMIM:601161 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Decreased response to growth hormone stimulation test, Depressed nasal bridge, Short nose, Anteve... |
OMIM:616430 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose |
ORPHA:2015 |
Deafness-Craniofacial Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:125230 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia |
OMIM:302950 |
Burn-Mckeown Syndrome |
|
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Non-Distal Trisomy 10Q |
|
Depressed nasal bridge, Cryptorchidism, Short nose, Convex nasal ridge |
ORPHA:1695 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:609528 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Diabetes Insipidus, Neurohypophyseal |
|
Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insipidus |
OMIM:125700 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Short neck, Endocardial fibroelastosis, Ventricular septal defect, Dextroca... |
ORPHA:99776 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617392 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:614069 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:619311 |
Frontofacionasal Dysplasia |
|
Encephalocele, Facial cleft, Short stature |
ORPHA:1791 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Wide nasal bridge |
ORPHA:3207 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Spina bifida occulta, Facial cleft, Webbed neck, Intrauterine growth retardation |
ORPHA:1786 |
Lamb-Shaffer Syndrome |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge |
OMIM:616803 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Wide nasal bridge, Hypogonadism... |
ORPHA:791 |
Cofs Syndrome |
|
Abnormal nasal morphology, Wide nasal bridge, Hypogonadism |
ORPHA:1466 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Anteverted nares, Cryptorchidism, Prominent nasal bridge, Wide ... |
ORPHA:1703 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge, Encephalocele |
OMIM:200130 |
Aminoacylase 1 Deficiency |
|
Wide nasal bridge |
OMIM:609924 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft, Mild short stature, Advanced eruption of teeth |
ORPHA:952 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft, Abnormal heart morphology |
OMIM:239800 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:3080 |
Facial Clefting, Oblique, 1 |
|
Facial cleft |
OMIM:600251 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose |
ORPHA:1450 |
Mental Retardation, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
Potocki-Shaffer Syndrome |
|
Short nose, Underdeveloped nasal alae, Wide nasal bridge, Micropenis |
OMIM:601224 |
Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Cryptorchidism, Bicornuate uterus, Wide nasal bridge |
OMIM:615524 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Wide nasal bridge |
OMIM:619844 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Occipital encephalocele, Craniosynostosis |
OMIM:614416 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Choanal stenosis, Concave... |
OMIM:122860 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:1513 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:616910 |
Alazami Syndrome |
|
Depressed nasal bridge, Wide nose, Wide nasal bridge |
OMIM:615071 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Delayed puberty |
ORPHA:1825 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Micropenis |
OMIM:612626 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Wide nasal bridge |
OMIM:617930 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Neonatal death, Wide nasal bridge |
OMIM:224410 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Short nose, Anteverted nares... |
ORPHA:2849 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Wide nasal bridge |
ORPHA:73273 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Short nose, Hypoplasia of penis |
ORPHA:217385 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft, Ectopia cordis |
OMIM:217100 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Depressed nasal b... |
OMIM:614732 |
Megalencephaly |
|
Macroorchidism, Wide nasal bridge, Long penis |
ORPHA:2477 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Hypospadias, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, ... |
ORPHA:171839 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Anteverted nares, Hypoplastic female external genitalia, Cryptorchidism, Wide nasal b... |
OMIM:618577 |
Oculomaxillofacial Dysostosis |
|
Facial cleft, Short stature |
ORPHA:1794 |
Ohdo Syndrome, X-Linked |
|
Bulbous nose, Small scrotum, Depressed nasal bridge, Prominent nose, Cryptorchidism, Wide nasal b... |
OMIM:300895 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Bifid nasal tip, Wide nose, Choanal atresia, Abnormal nasal bone morpholog... |
ORPHA:521308 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose |
ORPHA:438178 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Spina bifida occulta, Short nose, Hypogonadism, Small scrotum |
ORPHA:2983 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge |
OMIM:612913 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1832 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Bifid scrotum, Depressed nasal bridge, Ambiguous genitalia, Short nose, Cryp... |
ORPHA:93328 |
Pontocerebellar Hypoplasia Type 10 |
|
Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:411493 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft |
ORPHA:1647 |
Ring Chromosome 6 Syndrome |
|
Wide nasal bridge |
ORPHA:1448 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Wide nasal bridge |
OMIM:300983 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Bulbous nose, Hypospadias, Abnormality of the Leydig cells, Anteverted nares,... |
ORPHA:3063 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Prominent nose, Wide nasal bridge |
OMIM:617169 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge |
ORPHA:352490 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:613443 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Bifid nose, Hypopituitarism, Bifid nasal tip, Cryptorchidism, Mid... |
OMIM:603671 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Depressed nasal bridge, Coronal hypospadias, Neonatal death, Bilateral choanal atresia, Short nos... |
OMIM:619859 |
Velo-Facial-Skeletal Syndrome |
|
Wide nasal bridge |
ORPHA:3424 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose |
OMIM:613670 |
Pallister-Hall-Like Syndrome |
|
Micropenis, Depressed nasal bridge, Anterior hypopituitarism, Short nose, Occipital encephalocele |
OMIM:241800 |
Kahrizi Syndrome |
|
Bulbous nose, Wide nasal bridge |
OMIM:612713 |
Pontocerebellar Hypoplasia, Type 10 |
|
Cryptorchidism, Short nose, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:615803 |
Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Short nose |
OMIM:617991 |
Distal Trisomy 18Q |
|
Hypoplasia of penis, Short nose, Abnormality of female external genitalia, Choanal atresia, Antev... |
ORPHA:1716 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Branchial anomaly, Webbed neck |
ORPHA:1131 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Depressed nasal tip, Anterior hypopituitarism, Cryptorchidism, Wide nasal b... |
ORPHA:2863 |
Ring Chromosome 1 Syndrome |
|
Anteverted nares, Wide nasal bridge |
ORPHA:1437 |
Pierpont Syndrome |
|
Micropenis, Broad nasal tip, Short nose, Wide nose, Cryptorchidism |
OMIM:602342 |
Lissencephaly 4 |
|
Wide nasal bridge |
OMIM:614019 |
Filippi Syndrome |
|
Low hanging columella, Ambiguous genitalia, Cryptorchidism, Underdeveloped nasal alae, Wide nasal... |
OMIM:272440 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:171860 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:261120 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:264470 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Shawl scrotum, Cryptorchidism, Wide nasal bridge |
ORPHA:2256 |
Acrodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Irregular menstruation, Short nose, Abnormality of... |
ORPHA:950 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Cryptorchidism, External genital hypoplasia, Wide nasal bridge |
OMIM:600118 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Micropenis, Recurrent upper respiratory tract infections, Wide nose, Short nose, Anteverted nares |
OMIM:300209 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Hypogonadotropic hypogonadism, Abnormality of the nares, Shor... |
ORPHA:1295 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Depressed nasal bridge, Congenital hypothyroidism, Short nose, Diabetes mellitus, An... |
OMIM:614613 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Wide nasal bridge |
OMIM:615834 |
Tonne-Kalscheuer Syndrome |
|
Micropenis, Hypospadias, Prominent nose, Decreased testicular size, Cryptorchidism, Prominent nas... |
OMIM:300978 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Delayed puberty |
ORPHA:2598 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Wide nasal bridge, Umbilical hernia |
ORPHA:1516 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Broad nasal tip, Short nose, Umbilical hernia |
OMIM:613544 |
Velofacioskeletal Syndrome |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:600736 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge |
OMIM:313420 |
Short Rib-Polydactyly Syndrome |
|
Disproportionate short-limb short stature, Situs inversus totalis, Cystic hygroma, Transposition ... |
ORPHA:1505 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Wide nasal bridge |
ORPHA:166024 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Spina bifida occulta, Narrow nasal bridge |
ORPHA:1514 |
Mulibrey Nanism |
|
Wide nasal bridge |
ORPHA:2576 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose, Macroorchidism |
OMIM:300143 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge |
ORPHA:1529 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism, Wide nasal bridge |
OMIM:619595 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Bulbous nose, Hypospadias, Depressed nasal bridge, Anteverted nares, Wide nasal bridge |
OMIM:615761 |
Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Craniosynostosis 2 |
|
Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis, Unicoronal synostosi... |
OMIM:604757 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism, Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge |
ORPHA:2053 |
Monosomy 5P |
|
Wide nasal bridge |
ORPHA:281 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Short nose, Slender nose |
OMIM:615419 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Wide nasal bridge |
OMIM:619690 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide nasal bridge |
OMIM:600991 |
Lissencephaly, X-Linked, 2 |
|
Micropenis, Ambiguous genitalia, Decreased testicular size, Prominent nasal bridge, Wide nasal br... |
OMIM:300215 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Micropenis, Hypospadias, Umbilical hernia, Cryptorchidism, Wide nasal bridge |
ORPHA:2872 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618388 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Abnormality of the nares, Short nose, Short columella |
ORPHA:1248 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Prominent nose, Wide nasal bridge |
ORPHA:137831 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Short nose, Prominent nasal bridge, Wide nasal bridge |
ORPHA:401935 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge |
OMIM:615979 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose |
ORPHA:2370 |
Non-Syndromic Metopic Craniosynostosis |
|
Wide nasal bridge |
ORPHA:3366 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Bulbous nose, Low hanging columella, Broad nasal tip, Depressed nasal bridge, Anteverted nares, C... |
OMIM:613792 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Neonatal death, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:610015 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Flared nostrils, Wide nasal bridge |
OMIM:312170 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:614744 |
Ohdo Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Short nose, Anteverted nares, Cryptorchidism, Small sc... |
OMIM:249620 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Distal Monosomy 10P |
|
Convex nasal ridge, Hypoplasia of penis, Polycystic ovaries, Cryptorchidism, Wide nasal bridge |
ORPHA:1580 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:248910 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nose, Bifid nasal tip, Cranium bifidum occultum, Short columella, Anterior... |
OMIM:136760 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618067 |
Baker-Gordon Syndrome |
|
Short nose, Prominent nasal tip |
OMIM:618218 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge |
OMIM:614066 |
Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Short nose |
ORPHA:969 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Wide nasal bridge, Micropenis |
OMIM:614684 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Wide nasal bridge |
OMIM:614870 |
Gand Syndrome |
|
Broad nasal tip, Wide nasal bridge |
OMIM:615074 |
Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Encephalocele |
OMIM:613885 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Boomerang Dysplasia |
|
Neonatal death, Hypoplastic nasal septum, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:112310 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge |
OMIM:614078 |
Joubert Syndrome 37 |
|
Micropenis, Wide nose, Decreased testicular size, Anteverted nares, Cryptorchidism, Wide nasal br... |
OMIM:619185 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Bulbous nose, Precocious puberty, Wide nasal bridge |
OMIM:300958 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Depressed nasal bridge, Short nose, Abnormality of the uterus, Umbilical hernia |
ORPHA:2143 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Miller-Dieker Syndrome |
|
Anteverted nares, Short nose |
ORPHA:531 |
Clark-Baraitser Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short nose, Low hanging columella |
OMIM:617752 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge |
OMIM:617127 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Low hanging columella, Unilateral cryptorchidism, Cryptorchidism, Wide nasal bridge, Wide nasal base |
OMIM:617788 |
Blepharonasofacial Malformation Syndrome |
|
Wide nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:1252 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal morphology of female internal genitalia, Anteverted nares, Spina bifida occulta, Wide na... |
ORPHA:1797 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short nose |
OMIM:613458 |
Dermoid Cysts, Familial Frontonasal |
|
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge |
OMIM:600679 |
Achondrogenesis |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:932 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Facial cleft |
ORPHA:268249 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Depressed nasal bridge, Short nose, Choanal atresia, Anteverted nares |
ORPHA:1914 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Shawl scrotum |
ORPHA:85277 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Short nose, Cryptorchidism, Prominent nasal bridge, Underdeveloped nasal ala... |
ORPHA:2083 |
Joubert Syndrome 10 |
|
Wide nasal bridge |
OMIM:300804 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia |
OMIM:175700 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Treacher-Collins Syndrome |
|
Encephalocele, Patent ductus arteriosus, Facial cleft, Branchial fistula |
ORPHA:861 |
Filippi Syndrome |
|
Supernumerary nipple, Broad columella, Wide nose, Cryptorchidism, Prominent nasal bridge, Underde... |
ORPHA:3255 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose |
OMIM:122880 |
Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Depressed nasal bridge, Short nose, Broad nasal tip |
OMIM:619736 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Cryptorchidism, Wide nasal bridge |
ORPHA:377 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Cryptorchidism, Short nose |
ORPHA:2701 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short nose, Wide nasal bridge |
OMIM:611936 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Wide nasal bridge |
OMIM:610127 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Short nose, Wide nose |
OMIM:613457 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:1237 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft |
OMIM:613451 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:618316 |
Pentasomy X |
|
Wide nasal bridge, Delayed puberty |
ORPHA:11 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Wide nasal bridge, Depressed nasal bridge |
ORPHA:2077 |
Achondrogenesis Type 1B |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93298 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Depressed nasal bridge, Irregular menst... |
OMIM:110100 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Depressed nasal bridge, Short nose, Hypospadias |
ORPHA:1913 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Short nose, Prominent nasal bridge, Micropenis |
OMIM:613870 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Short nose, Broad columella |
OMIM:617865 |
Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Umbilical hernia |
ORPHA:380 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Short nose, Precocious puberty |
OMIM:619356 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short nose, Prominent nasal bridge |
OMIM:300558 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Wide nasal bridge |
OMIM:615032 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge |
OMIM:618658 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Wide nasal bridge |
ORPHA:352530 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Facial cleft, Tetralogy of Fallot |
ORPHA:306542 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bulbous nose, Depressed nasal bridge, Short nose, Umbilical hernia, Cryptorchidism, Wide nasal br... |
ORPHA:369891 |
Achondrogenesis Type 1A |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93299 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Abnormality of the nares, Hypogonadism, Cryptorchidism, Wide nasal bridge |
ORPHA:178303 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge |
ORPHA:915 |
Rafiq Syndrome |
|
Bulbous nose, Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasal bridge |
OMIM:614202 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Micropenis, Neonatal death, Anteverted nares, Wide nasal bridge |
OMIM:618810 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Bulbous nose, Supernumerary nipple, Depressed nasal bridge, Wide nasal bridge, Narrow nose, Short... |
OMIM:618454 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Broad nasal tip, Depressed nasal bridge, Anteverted nares, Pseudohypoparathyroidism, Wide nasal b... |
OMIM:617157 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:613038 |
Woods Syndrome |
|
Wide nasal bridge, Supernumerary nipple, Low hanging columella |
OMIM:615236 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose |
ORPHA:1495 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Wide nasal bridge, Shawl scrotum, Umbilical hernia |
ORPHA:1778 |
Melanocytic Nevus Syndrome, Congenital |
|
Anteverted nares, Broad nasal tip, Short nose, Narrow nasal ridge |
OMIM:137550 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Short nose, Umbilical hernia |
OMIM:616638 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Broad nasal tip, Short nose, Wide nasal bridge |
OMIM:618529 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Broad nasal tip, Long nose, Depressed nasal bridge, Wide nose, Low insertion of columella, Wide n... |
OMIM:619995 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Prominent nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:611091 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Abnormality of the urethra, Convex nasal ridge |
ORPHA:2145 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal ridge |
ORPHA:77300 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Short nose, Aplasia of the uterus |
OMIM:266810 |
Mental Retardation, Buenos Aires Type |
|
Hypospadias, Prominent nose, Wide nasal bridge |
OMIM:249630 |
Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Depressed nasal bridge |
OMIM:614541 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge |
OMIM:618205 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Hypothyroidism, Short nose, Diabet... |
ORPHA:391372 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bridge |
OMIM:611209 |
Multiple Metaphyseal Dysplasia |
|
Wide nasal bridge, Depressed nasal ridge |
ORPHA:93430 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Short nose, Wide nasal bridge |
OMIM:614207 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:618356 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Anteverted nares, Depressed nasal bridge, Short nose, Spina bifida |
ORPHA:1327 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Wide nasal bridge |
OMIM:616025 |
Orofaciodigital Syndrome Xviii |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:617927 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Prominent nasal tip, Micropenis, Depressed nasal bridge, Recurrent upper respiratory tract infect... |
OMIM:612513 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Labial hypoplasia, Cryptorchidism, Hypospadias, Wide nose, Recurrent bronchitis, Anteverted nares... |
OMIM:619293 |
Zechi-Ceide Syndrome |
|
Wide nose, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:612916 |
Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Hypoplasia of penis |
ORPHA:2547 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Bulbous nose, Depressed nasal bridge, Prominent nose, Anteverted nares, Wide nasal bridge |
ORPHA:2180 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
ORPHA:93267 |
Al-Raqad Syndrome |
|
Short nose |
OMIM:616459 |
Craniofrontonasal Dysplasia |
|
Depressed nasal ridge, Hypospadias, Shawl scrotum, Midline defect of the nose, Wide nasal bridge |
ORPHA:1520 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Broad nasal tip, Prominent nasolabial fold, Convex nasal ridge, Wide nasal bridge |
OMIM:619451 |
Autosomal Recessive Omodysplasia |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose |
ORPHA:93329 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Convex nasal ridge, Wide nasal bridge |
OMIM:314320 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short nose, Depressed nasal ridge |
OMIM:618774 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Wide nasal bridge |
OMIM:613603 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal bridge, Wide nasal base |
OMIM:616521 |
Baraitser-Winter Syndrome 1 |
|
Micropenis, Short nose, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:243310 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Bulbous nose, Short nose |
OMIM:614105 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Large beaked nose, Wide nasal bridge |
ORPHA:3369 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Bifid scrotum, Hypothyroidism, Umbilical hernia, Cryptorchidism, Wide nasal ... |
ORPHA:85321 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Anteverted nares, Depressed nasal bridge, Short nose |
OMIM:618961 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:619556 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Pulmonary embolism, Prolonged bleeding time, Patent ductus arteriosus, Inte... |
ORPHA:90308 |
6Q25 Microdeletion Syndrome |
|
External genital hypoplasia, Wide nasal bridge |
ORPHA:251056 |
Charlie M Syndrome |
|
Wide nasal bridge |
ORPHA:1406 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge |
OMIM:618302 |
Non-Distal Trisomy 13Q |
|
Cryptorchidism, Short nose |
ORPHA:1702 |
3Mc Syndrome 3 |
|
Growth delay, Facial cleft, Short stature |
OMIM:248340 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Low hanging columella, Hypospadias, Cryptorchidism, Prominent nasal bridge, Wide nasal bridge |
OMIM:618659 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Prominent nasal bridge, Wide nasal bridge |
OMIM:618009 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose |
DECIPHER:52 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge |
OMIM:615716 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Short nose |
OMIM:613604 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:261295 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Cryptorchidism, Wide nasal bridge, Small scrotum |
ORPHA:1970 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Bulbous nose, Prominent nose, Wide nasal bridge |
OMIM:614067 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Wide nasal bridge |
OMIM:618402 |
Trisomy 18P |
|
Bilateral cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:1715 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Depressed nasal bridge, Short nose, Shawl scrotum, Anteverte... |
OMIM:145420 |
Jung Syndrome |
|
Hypothyroidism, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2321 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Bartsocas-Papas Syndrome 1 |
|
Facial cleft, Short neck, Intrauterine growth retardation, Patent foramen ovale |
OMIM:263650 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Short nose, Wide nasal bridge |
OMIM:618437 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge |
OMIM:222765 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide nasal bridge |
OMIM:614859 |
Wiedemann-Steiner Syndrome |
|
Wide nose, Depressed nasal tip, Wide nasal bridge |
OMIM:605130 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Primary adrenal insufficiency, Wide nasal bridge |
ORPHA:44 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose |
OMIM:300887 |
Fraser Syndrome 1 |
|
Myelomeningocele, Hydrocephalus, Facial cleft, Encephalocele, Abnormal heart morphology |
OMIM:219000 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Bulbous nose, Prominent nose, Wide nasal bridge |
OMIM:301022 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Short nose, Depressed nasal ridge |
ORPHA:2831 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Short nose, Depressed nasal ridge, Bifid scrotum |
ORPHA:1912 |
Frank-Ter Haar Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Umbilical hernia |
ORPHA:137834 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Exencephaly, Encephalocele, Brachycephaly |
ORPHA:2211 |
Martin-Probst Syndrome |
|
Chordee, Bifid scrotum, Micropenis, Hypoplastic nipples, Hypothyroidism, Umbilical hernia, Crypto... |
OMIM:300519 |
Warburg Micro Syndrome 2 |
|
Micropenis, Short nose, Hypoplastic labia majora, Cryptorchidism, Prominent nasal bridge, Small s... |
OMIM:614225 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Metaphyseal Acroscyphodysplasia |
|
Wide nasal bridge, Depressed nasal ridge |
ORPHA:1240 |
Femoral-Facial Syndrome |
|
Cryptorchidism, Short nose, Maternal diabetes, Long penis |
ORPHA:1988 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:99688 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Short stature, Single ventricle, Ethmocephaly, Facial cleft |
OMIM:236100 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Bulbous nose, Short nose, Prominent nasal bridge |
OMIM:618828 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:616158 |
Coffin-Siris Syndrome 9 |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Low hanging colu... |
OMIM:615866 |
20Q11.2 Microduplication Syndrome |
|
Abnormal nasal bridge morphology, Bifid scrotum, Micropenis, Depressed nasal bridge, Short nose, ... |
ORPHA:363659 |
Waardenburg-Shah Syndrome |
|
Abnormality of the nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:897 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Short nose, Choanal atresia |
ORPHA:1895 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Glandular hypospadias, Wide nasal bridge, Shawl scrotum |
ORPHA:2575 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Wide nasal bridge |
OMIM:600906 |
8Q12 Microduplication Syndrome |
|
Wide nasal bridge |
ORPHA:228399 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge |
ORPHA:163654 |
Noonan Syndrome 6 |
|
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge |
OMIM:613224 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Short nose |
OMIM:619854 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Testicular torsion, Wide nasal bridge |
ORPHA:75496 |
Micro Syndrome |
|
Hypoplasia of penis, Clitoral hypoplasia, Hypoplastic labia minora, Short nose, Delayed puberty, ... |
ORPHA:2510 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Wide nasal bridge |
OMIM:613192 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Cryptorchidism, Wide nasal bridge |
ORPHA:98791 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Hypospadias, Short nose, Anteverted nares, Cryptorchidism, Underdeveloped nasal al... |
OMIM:613026 |
Gms Syndrome |
|
Depressed nasal bridge, Short nose |
OMIM:138770 |
Verheij Syndrome |
|
Short nose, Wide nasal bridge |
OMIM:615583 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Low hanging columella, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge |
OMIM:616977 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Umbilical hernia, Enlarged naris, Anteverted nares, Short columella, Prominent nasolabial fold, W... |
OMIM:616266 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Wide nasal bridge |
OMIM:218000 |
Waardenburg Syndrome Type 1 |
|
Short nose, Meningocele, Spina bifida, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:894 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Wide nasal bridge |
ORPHA:1278 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:93946 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose |
ORPHA:228384 |
Nablus Mask-Like Facial Syndrome |
|
Labial hypoplasia, Micropenis, Depressed nasal bridge, Hypoplastic nipples, Short nose, Cryptorch... |
OMIM:608156 |
Cantu Syndrome |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Umbilical hernia |
OMIM:239850 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Cryptorchidism, Wide nasal bridge, Umbilical hernia |
OMIM:601499 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Arrhythmia, Te... |
ORPHA:2162 |
Warburg Micro Syndrome 3 |
|
Micropenis, Hypoplastic labia minora, Short nose, Decreased testicular size, Small scrotum |
OMIM:614222 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Depressed nasal b... |
ORPHA:363528 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:261304 |
Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge |
ORPHA:324581 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Elevated circulating parathyroid hormone level, Hypospadias, Depressed nasal... |
ORPHA:439822 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Short nose, Delayed puberty |
ORPHA:496790 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge |
OMIM:617333 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Wide nasal bridge |
OMIM:601450 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:2835 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Wide nasal bridge |
OMIM:618342 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Panhypopituitarism, Maternal diabetes, Narrow nasal bridge, Hypothyroidism, ... |
ORPHA:280200 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:220220 |
Down Syndrome |
|
Type II diabetes mellitus, Depressed nasal ridge, Depressed nasal bridge, Hypothyroidism, Short n... |
ORPHA:870 |
Kosaki Overgrowth Syndrome |
|
Wide nasal bridge |
OMIM:616592 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Prominent nasal bridge, Wi... |
OMIM:300260 |
Joubert Syndrome 28 |
|
Wide nasal bridge |
OMIM:617121 |
Spinocerebellar Ataxia With Dysmorphism |
|
Anteverted nares, Short nose |
OMIM:271270 |
Mulibrey Nanism |
|
Depressed nasal bridge, Wide nose, Wide nasal bridge |
OMIM:253250 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Short nose, Convex nasal ridge, Delayed puberty |
ORPHA:3121 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Short nose, Wide nose, Delayed puberty, Diabetes mellitus, Anteverted nares |
ORPHA:391408 |
Scarf Syndrome |
|
Bifid scrotum, Micropenis, Hypoplastic nipples, Umbilical hernia, Cryptorchidism, Perineal hyposp... |
OMIM:312830 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge |
ORPHA:168486 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Supernumerary nipple, Micropenis, Hypospadias, Depressed nasal bridge, Triangular nasal tip, Ante... |
OMIM:141750 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Short nose, Choanal atresia |
ORPHA:284169 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Abnormal nasal morphology, Anteverted nares, Cryptorchidism, Wide nasal b... |
ORPHA:404440 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Hypospadias, Wide nasal bridge, Bifid scrotum |
ORPHA:66629 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Anteverted nares, Depressed nasal bridge, Short nose, Wide nose |
OMIM:613320 |
Radio-Tartaglia Syndrome |
|
Bulbous nose, Precocious puberty, Prominent nasal tip, Depressed nasal bridge, Anteverted nares, ... |
OMIM:619312 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Depressed nasal ridge |
OMIM:616854 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Low hanging columella, Broad columella, Narrow nasal bridge, Short nose, Anteverted nares, Wide n... |
OMIM:619383 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Broad nasal tip, Short nose, Anteverted na... |
OMIM:615873 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Short nose |
OMIM:616420 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Bulbous nose, Prominent nose, Wide nasal bridge |
OMIM:606220 |
Trisomy 8Q |
|
Myelomeningocele, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism, Wide ... |
ORPHA:1752 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Short nose, Spina bifida occulta |
ORPHA:1185 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Supernumerary nipple, Broad nasal tip, Depressed nasal bridge, Short nose, Ch... |
OMIM:615485 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Short nose, Decreased fertility |
OMIM:234050 |
Chromosome 10Q26 Deletion Syndrome |
|
Flared nostrils, Convex nasal ridge, Small scrotum, Micropenis, Prominent nose, Cryptorchidism, W... |
OMIM:609625 |
Waardenburg Syndrome, Type 2A |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:193510 |
Codas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short nose, Midline defect of the nose |
ORPHA:1458 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Decreased circulating androgen concentration, Abnormal external genitalia, Decrease... |
ORPHA:95699 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge |
OMIM:309620 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae |
ORPHA:163961 |
Okur-Chung Neurodevelopmental Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:617062 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Macs Syndrome |
|
Hypergonadotropic hypogonadism, Urethral stenosis, Umbilical hernia, Cryptorchidism, Wide nasal b... |
OMIM:613075 |
Liang-Wang Syndrome |
|
Wide nasal bridge |
OMIM:618729 |
Man1B1-Cdg |
|
Underdeveloped nasolabial fold, Wide nose, Prominent nose, Wide nasal bridge |
ORPHA:397941 |
16P12.1P12.3 Triplication Syndrome |
|
Bilateral cryptorchidism, Bulbous nose, Short nose, Decreased response to growth hormone stimulat... |
ORPHA:485405 |
Stickler Syndrome Type 1 |
|
Short nose |
ORPHA:90653 |
Congenital Disorder Of Glycosylation, Type Id |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge |
OMIM:601110 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Hydrocele testis, Bulbous nose, Low hanging columella, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:619493 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, External genital hypoplasia, Umbilical hernia, Anteverted nares, Wide nasal b... |
ORPHA:324313 |
Lig4 Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Hypothyroidism, Cryptorchidism, Large beaked nose... |
ORPHA:99812 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Short nose, Underdeveloped nasal alae, Hypoplastic male external genitalia |
ORPHA:1234 |
Roifman-Chitayat Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Umbilical hernia |
OMIM:613328 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphroditism, Cryptorchidism, Wide nasal bridge |
ORPHA:2075 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:616897 |
Smith-Magenis Syndrome |
|
Precocious puberty, Depressed nasal bridge, Hypothyroidism, Short nose, Delayed puberty, Antevert... |
ORPHA:819 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Short nose |
OMIM:605309 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:1522 |
Arthrogryposis, Distal, Type 2A |
|
Spina bifida occulta, Short nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:193700 |
Waardenburg Syndrome |
|
Myelomeningocele, Abnormal vagina morphology, Abnormality of the uterus, Prominent nasal bridge, ... |
ORPHA:3440 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Hypospadias, Short nose, Short nasal bridge, Choanal atresia, Bilateral crypt... |
ORPHA:2409 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Neonatal death, Umbilical hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:614052 |
Temple-Baraitser Syndrome |
|
Depressed nasal bridge, Wide nose, Thick nasal alae, Anteverted nares, Wide nasal bridge |
ORPHA:420561 |
Simosa Craniofacial Syndrome |
|
Long nose, Depressed nasal tip, Underdeveloped nasal alae, Wide nasal bridge |
OMIM:182150 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Short nose |
OMIM:614524 |
Trisomy 12P |
|
Short nose, Supernumerary nipple, Wide nasal bridge |
ORPHA:1699 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Wide nasal bridge, Diabetes insipidus |
OMIM:611087 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short nose, Underdeveloped nasal alae, Meningocele |
ORPHA:2031 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Cryptorchidism, Prominent nasal bridge, Wide nasal bridge |
OMIM:617452 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge |
ORPHA:89844 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Anteverted nares, Wide nasal bridge |
ORPHA:50812 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Cryptorchidism, Micropenis, Hypospadias, Umbilical hernia, Recto... |
OMIM:300000 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Small scrotum, Long nose, Cryptorchidism, Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:1968 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Long nose, Narrow nose, Short nose, Cryptorchidism |
OMIM:617602 |
Tetrasomy 18P |
|
Short nose |
ORPHA:3307 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Short nose |
ORPHA:166272 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Anteverted nares, Wide nasal bridge, Depressed nasal ridge |
ORPHA:2412 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Aortic regurgi... |
ORPHA:261330 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Depressed nasal bri... |
OMIM:616835 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Abnormal nasopharynx morphology, Nasal congestion, Wide nasal bridge, Bony paranasal bossing |
OMIM:218400 |
Axenfeld-Rieger Syndrome |
|
Hypospadias, Abnormality of the hypothalamus-pituitary axis, Wide nasal bridge, Depressed nasal b... |
ORPHA:782 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micropenis, Depressed nasal bridge, Short nose, Umbilical hernia, Anteverted nares, Cryptorchidism |
OMIM:616331 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Wide nasal bridge |
OMIM:607906 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Hypoplastic nipples |
OMIM:618505 |
Sweeney-Cox Syndrome |
|
Choanal atresia, Short columella, Bilateral cryptorchidism, Underdeveloped nasal alae, Wide nasal... |
OMIM:617746 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618950 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Wide nasal bridge, Micropenis |
OMIM:615966 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Short nose |
OMIM:602613 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617102 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Short nose, Spina bifida occulta |
OMIM:617877 |
Distal Monosomy 9P |
|
Hypospadias, Short nose, Wide nasal bridge, Hypoplastic labia majora |
ORPHA:1642 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Low hanging columella, Bifid scrotum, Encephalocele, Hypospadias, Anencephaly, Choanal atresia, P... |
OMIM:619148 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge |
OMIM:618821 |
Otopalatodigital Syndrome Type 1 |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:90650 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short nose |
OMIM:608776 |
Spinocerebellar Ataxia 47 |
|
Wide nasal bridge |
OMIM:617931 |
Tetrasomy 12P |
|
Anteverted nares, Short nose |
ORPHA:884 |
Oculocerebrodental Syndrome |
|
Depressed nasal bridge, Thick nasal alae, Wide nasal bridge, Broad columella |
ORPHA:557003 |
Focal Facial Dermal Dysplasia Type Iii |
|
Wide nasal bridge, Depressed nasal ridge |
ORPHA:1807 |
Peroxisome Biogenesis Disorder 2B |
|
Adrenal insufficiency, Anteverted nares, Wide nasal bridge |
OMIM:202370 |
Johanson-Blizzard Syndrome |
|
Abnormal vagina morphology, Hypoplasia of penis, Hypospadias, Abnormality of the nares, Abnormali... |
ORPHA:2315 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Micropenis, Male pseudohermaphroditism, Hypospadias, Short nose, Shawl scrotum, Anteverted nares,... |
ORPHA:2282 |
Koolen-De Vries Syndrome |
|
Bulbous nose, Hypospadias, Hypothyroidism, Thick nasal alae, Cryptorchidism, Prominent nasal brid... |
ORPHA:96169 |
Pilodental Dysplasia With Refractive Errors |
|
Wide nasal bridge |
OMIM:262020 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Micropenis, Hypospadias, Depressed nasal tip, Wide nasal bridge, Ambiguous genitali... |
OMIM:612651 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Adrenal hypoplasia, Short nose, Wide na... |
ORPHA:7 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Short nose, Decreased response to growth hormone stimulation test |
OMIM:601853 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Secundum atrial septal defect |
ORPHA:2260 |
Zechi-Ceide Syndrome |
|
Wide nose, Wide nasal bridge |
ORPHA:217017 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Broad nasal tip, Depressed nasal bridge, Short nose, Umbilical hernia |
OMIM:222448 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypoplastic nasal tip, Cryptorchidism, Wide nasal bridge |
ORPHA:3304 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Wide nasal bridge |
OMIM:182290 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Short nose |
OMIM:618430 |
Distal Trisomy 5Q |
|
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Short nose, Cryptorchidism, Prominent nasal b... |
ORPHA:96097 |
Developmental And Epileptic Encephalopathy 89 |
|
Depressed nasal bridge, Wide nasal bridge, Neonatal death, Hypoplastic labia minora, Clitoral hyp... |
OMIM:619124 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge |
OMIM:619320 |
Schneckenbecken Dysplasia |
|
Short nose, Stillbirth, Umbilical hernia |
OMIM:269250 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Alkuraya-Kucinskas Syndrome |
|
Micropenis, Depressed nasal bridge, Short nose, Anteverted nares, Small scrotum |
OMIM:617822 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose |
OMIM:615539 |
Trisomy 20P |
|
Hypospadias, Short nose, Umbilical hernia, Anteverted nares, Cryptorchidism, Spina bifida, Macroo... |
ORPHA:261318 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short nose, Cryptorchidism, Prominent nasal bridge, Wide nasal bridge |
ORPHA:251071 |
Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Spinal dysraphism, Meningocele, Encephalocele, Wide nasal bridge |
ORPHA:1908 |
C Syndrome |
|
Short nose, Clitoral hypertrophy, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:211750 |
Meckel Syndrome 12 |
|