Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Falls, Apathy, Shuffling gait, Bradykinesia, Short stepped shuf... |
ORPHA:412066 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Fryns Microphthalmia Syndrome |
|
Facial cleft, Neural tube defect |
OMIM:600776 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression |
OMIM:159900 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Cognitive impairment, Ataxia, Anxiety, Depression, Memory impai... |
ORPHA:401901 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Anteverted nares |
OMIM:601163 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Bradykinesia, Anxiety, Depression |
OMIM:605909 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
OMIM:209970 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Huntington Disease-Like 1 |
|
Dementia, Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Wide nasal bridge |
ORPHA:2007 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Chromosome 18P Deletion Syndrome |
|
Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism, Decreased testicular size, Gonad... |
OMIM:146390 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Ventricular septal defect, Facial cleft |
OMIM:601357 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... |
OMIM:235200 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
3Q13 Microdeletion Syndrome |
|
Anteverted nares, Cryptorchidism, Hypoplasia of penis, Wide nasal bridge |
ORPHA:1621 |
Ohdo Syndrome, X-Linked |
|
Prominent nose, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Cryptorchidism |
OMIM:300895 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Wide nas... |
OMIM:305400 |
Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
Deafness, X-Linked 7 |
|
Wide nasal bridge |
OMIM:301018 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Wide nasal bridge, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Facial cleft |
ORPHA:1104 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Short nose, Delayed puberty |
ORPHA:217340 |
Fg Syndrome 4 |
|
Wide nasal bridge |
OMIM:300422 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Thick nasal alae, Broad nasal tip, Wide nasal bridge |
OMIM:618147 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Cognitive impairment, Apathy, Anxiety, Depression |
OMIM:615483 |
Trisomy 18-Like Syndrome |
|
Wide nasal bridge |
OMIM:601161 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Broad nasal tip, Wide nasal bridge |
OMIM:600093 |
Steel Syndrome |
|
Wide nasal bridge |
OMIM:615155 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Dystonia 26, Myoclonic |
|
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Decreased response to gr... |
OMIM:616430 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose |
ORPHA:2015 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Hypogonadism, Short nasal septum, Anosmia |
OMIM:302950 |
Deafness-Craniofacial Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:125230 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge |
ORPHA:1200 |
Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level |
OMIM:125700 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Cryptorchidism, Short nose, Depressed nasal bridge |
ORPHA:1695 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... |
ORPHA:465508 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:609528 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Intrauterine growth retardation, Facial cleft, Webbed ne... |
ORPHA:99776 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge |
OMIM:618302 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617392 |
Mental Retardation, Autosomal Recessive 45 |
|
Wide nasal bridge |
OMIM:615979 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:614069 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Wide nasal bridge, Increased circulating gonadotropin level, Micrope... |
ORPHA:261534 |
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 |
Acrofacial Dysostosis, Catania Type |
|
Facial cleft, Intrauterine growth retardation, Short stature, Webbed neck, Spina bifida occulta |
ORPHA:1786 |
Ohdo Syndrome |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Anteverted nares, Cryptorchidism |
OMIM:249620 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Wide nasal bridge, Hypogonadism, Abnormal testis morphology, Anteverte... |
ORPHA:791 |
Lamb-Shaffer Syndrome |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:616803 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... |
ORPHA:168782 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Low hanging columella, Ambiguous genitalia, Cryptor... |
OMIM:272440 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Cofs Syndrome |
|
Hypogonadism, Wide nasal bridge, Abnormal nasal morphology |
ORPHA:1466 |
Aminoacylase 1 Deficiency |
|
Wide nasal bridge |
OMIM:609924 |
Mosaic Trisomy 14 |
|
Hypospadias, Prominent nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism, Hypopla... |
ORPHA:1703 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Micropenis, Short nose, Wide nasal bridge |
OMIM:601224 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Cryptorchidism, Bulbous nose, Wide nasal bridge |
ORPHA:3080 |
Acrofacial Dysostosis, Weyers Type |
|
Mild short stature, Facial cleft, Advanced eruption of teeth |
ORPHA:952 |
Wolfram Syndrome 1 |
|
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
Mental Retardation, X-Linked 91 |
|
Short nose |
OMIM:300577 |
Adenylosuccinate Lyase Deficiency |
|
Anteverted nares, Short nose |
ORPHA:46 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal heart morphology, Facial cleft |
OMIM:239800 |
Facial Clefting, Oblique, 1 |
|
Facial cleft |
OMIM:600251 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism, Broad nasal tip, Wide nasal bridge |
OMIM:615524 |
Maxillonasal Dysplasia, Binder Type |
|
Short columella, Short nose, Depressed nasal bridge |
OMIM:155050 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Wide nasal bridge, Concav... |
OMIM:122860 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Depressed nasal bridge, Short nose, Micropenis, Adrenal hypoplasia, Cryptorchidism, ... |
OMIM:614732 |
Ring Chromosome 8 Syndrome |
|
Anteverted nares, Short nose |
ORPHA:1450 |
Triopia |
|
Midline facial cleft |
ORPHA:3374 |
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 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micropenis, Wide nasal bridge, Cryptorchidism |
OMIM:612626 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:615071 |
Chromosome 1P35 Deletion Syndrome |
|
Cryptorchidism, Wide nasal bridge |
OMIM:617930 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Wide nasal bridge, Neonatal death |
OMIM:224410 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Anteverted nares, Wide nasal bridge, Depressed nasal bridge, Delayed puberty |
ORPHA:1825 |
17P13.3 Microduplication Syndrome |
|
Short nose, Wide nose, Hypoplasia of penis |
ORPHA:217385 |
Perlman Syndrome |
|
Short nose, Wide nasal bridge, Anteverted nares, Abnormal pancreas morphology, Cryptorchidism, Hy... |
ORPHA:2849 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Wide nasal bridge |
ORPHA:73273 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Wide nasal bridge, Short columella, Umbilical hernia, Enlarged naris |
OMIM:616266 |
Mental Retardation, Autosomal Dominant 43 |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:616977 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Short stepped shufflin... |
OMIM:168605 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Narrow nasal bridge |
OMIM:618379 |
Megalencephaly |
|
Macroorchidism, Wide nasal bridge, Long penis |
ORPHA:2477 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Depressed nasal bridge, Short nose, Short columella, Micropenis, Anteverted nares, C... |
ORPHA:171839 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Depressed nasal bridge, Short nose, Ambiguous genitalia, Cryptorchidism, Hypoplasi... |
ORPHA:93328 |
Oculomaxillofacial Dysostosis |
|
Facial cleft, Short stature |
ORPHA:1794 |
Orofaciodigital Syndrome Xi |
|
Bulbous nose, Wide nasal bridge |
OMIM:612913 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Short nose |
ORPHA:1832 |
Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Frontal bossing |
ORPHA:35098 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Short nose, Wide nasal bridge, Anteverted nares, Cryptorchidism, Hypoplastic female external geni... |
OMIM:618577 |
Pontocerebellar Hypoplasia Type 10 |
|
Underdeveloped nasal alae, Wide nasal bridge |
ORPHA:411493 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Depressed nasal bridge, Short nose, Micropenis, Anteverted nares, Cryptorchidism, Umbilical hernia |
OMIM:616331 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Ring Chromosome 6 Syndrome |
|
Wide nasal bridge |
ORPHA:1448 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anteverted nares, Short nose, Depressed nasal bridge, Hypothyroidism |
OMIM:613038 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft, Hydrocephalus |
ORPHA:1647 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:613443 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Wide nasal bridge, Anteverted nares, Cryptorchidism, Umbilical hernia |
ORPHA:352490 |
Velo-Facial-Skeletal Syndrome |
|
Wide nasal bridge |
ORPHA:3424 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Wide nasal bridge |
OMIM:300983 |
Kahrizi Syndrome |
|
Bulbous nose, Wide nasal bridge |
OMIM:612713 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Prominent nasal bridge, Bulbous... |
ORPHA:3063 |
Distal Trisomy 18Q |
|
Short nose, Prominent nasal bridge, Choanal atresia, Anteverted nares, Cryptorchidism, Hypoplasia... |
ORPHA:1716 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia |
OMIM:606324 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Wide nasal bridge, Depressed nasal tip, Anterior hypopituitarism, Cryptorch... |
ORPHA:2863 |
Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Short nose |
OMIM:617991 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
Histidinuria Due To A Renal Tubular Defect |
|
Wide nasal bridge |
OMIM:235830 |
Pierpont Syndrome |
|
Broad nasal tip, Wide nose, Short nose, Micropenis, Cryptorchidism |
OMIM:602342 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:171860 |
Ring Chromosome 1 Syndrome |
|
Anteverted nares, Wide nasal bridge |
ORPHA:1437 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Wide nasal bridge |
ORPHA:2158 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:264470 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Depressed nasal bridge, Hypoplasia of penis, Wide nasal bridge, Cryptorchidism, Shawl scrotum |
ORPHA:2256 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Cryptorchidism, External genital hypoplasia, Wide nasal bridge |
OMIM:600118 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly |
ORPHA:1131 |
Acrodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypogonadism, Crypt... |
ORPHA:950 |
Craniofacial Dyssynostosis |
|
Underdeveloped nasal alae, Wide nasal bridge, Umbilical hernia |
ORPHA:1516 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Short nose, Wide nasal bridge |
OMIM:615803 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Congenital hypothyroidism, Depressed nasal bridge, Short nose, Diabetes mellitus, An... |
OMIM:614613 |
14Q11.2 Microdeletion Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:261120 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge |
OMIM:313420 |
Craniosynostosis 2 |
|
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal bossing, Turricephal... |
OMIM:604757 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Broad nasal tip, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Low hanging c... |
OMIM:613792 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Delayed puberty |
ORPHA:2598 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Prominent nose, Prominent nasal bridge, Wide nasal bridge, Micropenis, Cryptorchidis... |
OMIM:300978 |
Mulibrey Nanism |
|
Wide nasal bridge |
ORPHA:2576 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short nose, Anosmia, Abnormali... |
ORPHA:1295 |
Frontofacionasal Dysplasia |
|
Facial cleft, Short stature |
ORPHA:1791 |
Craniodigital-Intellectual Disability Syndrome |
|
Short nose, Spina bifida occulta, Narrow nasal bridge |
ORPHA:1514 |
Velofacioskeletal Syndrome |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:600736 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Wide nasal bridge |
ORPHA:166024 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short nose, Broad nasal tip, Umbilical hernia |
OMIM:613544 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Short nose |
ORPHA:1906 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Wide nose, Short nose, Micropenis, Recurrent upper respiratory tract infections, Anteverted nares |
OMIM:300209 |
Short Rib-Polydactyly Syndrome |
|
Intrauterine growth retardation, Facial cleft, Abnormal heart morphology, Situs inversus totalis,... |
ORPHA:1505 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Depressed nasal bridge |
ORPHA:1529 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft |
OMIM:607597 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Hypospadias, Wide nasal bridge, Micropenis, Cryptorchidism, Umbilical hernia |
ORPHA:2872 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Anteverted nares, Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:600991 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Cryptorchidism, Wide nasal bridge |
OMIM:619595 |
Monosomy 5P |
|
Wide nasal bridge |
ORPHA:281 |
Lissencephaly, X-Linked, 2 |
|
Wide nasal bridge, Prominent nasal bridge, Micropenis, Ambiguous genitalia, Decreased testicular ... |
OMIM:300215 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short nose, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Short nose, Short columella, Abnormality of the nares |
ORPHA:1248 |
Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Prominent nasal septum, Wide nasal bridge, Bifid nasal tip |
OMIM:616455 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares |
OMIM:615761 |
Warburg Micro Syndrome 3 |
|
Hypoplastic labia minora, Micropenis, Short nose, Decreased testicular size |
OMIM:614222 |
Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal craniosynostosis, Scaphocephaly, Turric... |
OMIM:614188 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Cryptorchidism, Short nose |
OMIM:615419 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Freeman-Sheldon Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Depressed nasal ridge, Wide nasal bridge |
ORPHA:2053 |
Peho-Like Syndrome |
|
Short nose |
OMIM:617507 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose |
OMIM:300143 |
Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618388 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Cryptorchidism, Short nose, Prominent nasal bridge |
ORPHA:401935 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Prominent nose, Wide nasal bridge |
ORPHA:137831 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose |
ORPHA:2370 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Wide nasal bridge |
OMIM:614870 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Anteverted nares, Wide nasal bridge, Flared nostrils |
OMIM:312170 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short nose |
ORPHA:221054 |
Isolated Trigonocephaly |
|
Wide nasal bridge |
ORPHA:3366 |
Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Wide nasal bridge, Bifid nose, Hypopituitarism, Cryptorchidism, Bifid nasal tip,... |
OMIM:603671 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Hypoplastic nasal septum, Wide nasal bridge, Neonatal death |
OMIM:112310 |
Distal Monosomy 10P |
|
Convex nasal ridge, Polycystic ovaries, Wide nasal bridge, Cryptorchidism, Hypoplasia of penis |
ORPHA:1580 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nose, Abnormal nasal bone morphology, Wide nasal bridge, Choanal ... |
ORPHA:521308 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:248910 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Micropenis, Wide nasal bridge, Cryptorchidism |
OMIM:614684 |
Craniosynostosis 6 |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... |
OMIM:616602 |
9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Wide nasal bridge, Anteverted nares, Precocious puberty, Umbilical h... |
ORPHA:324313 |
Acromicric Dysplasia |
|
Bulbous nose, Anteverted nares, Short nose |
ORPHA:969 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Gand Syndrome |
|
Broad nasal tip, Wide nasal bridge |
OMIM:615074 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose |
OMIM:617061 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Neonatal death, Short nose, Wide nasal bridge, Anteverted nares |
OMIM:610015 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:614744 |
Joubert Syndrome 37 |
|
Wide nose, Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism, Decreased testicular ... |
OMIM:619185 |
Miller-Dieker Syndrome |
|
Anteverted nares, Short nose |
ORPHA:531 |
Clark-Baraitser Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617752 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Bulbous nose, Wide nasal bridge |
OMIM:614066 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Bulbous nose, Precocious puberty, Wide nasal bridge |
OMIM:300958 |
Blepharonasofacial Malformation Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Wide nasal bridge, Wide nose |
ORPHA:1252 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Spina bifida occulta, Wide nasal bridge, Abnormal morphology of female internal... |
ORPHA:1797 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Wide nasal bridge |
OMIM:618342 |
Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618067 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Spina bifida occulta, Bi... |
OMIM:618736 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose |
OMIM:122880 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Wide nasal bridge |
OMIM:614078 |
Achondrogenesis |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:932 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge |
OMIM:617127 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Short nose, Abnormality of the uterus, Bicornuate uterus, Umbilical hernia |
ORPHA:2143 |
Joubert Syndrome 10 |
|
Wide nasal bridge |
OMIM:300804 |
Dermoid Cysts, Familial Frontonasal |
|
Nasal congestion, Anosmia, Wide nasal bridge, Deviated nasal septum |
OMIM:600679 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Facial cleft, Hydrocephalus |
ORPHA:268249 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Wide nasal bridge, Cryptorchidism, Umbilical hernia |
OMIM:175700 |
Pallister-Hall-Like Syndrome |
|
Micropenis, Short nose, Depressed nasal bridge, Anterior hypopituitarism |
OMIM:241800 |
Chromosome 16P13.3 Duplication Syndrome |
|
Bulbous nose, Short nose |
OMIM:613458 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge |
OMIM:617802 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Wide nasal bridge |
OMIM:610127 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Cryptorchidism |
ORPHA:377 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short nose, Wide nasal bridge |
OMIM:611936 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Cryptorchidism, Short nose |
ORPHA:2701 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Shawl scrotum |
ORPHA:85277 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
German Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Depressed nasal bridge, Wide nasal bridge |
ORPHA:2077 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nose, Prominent nasal bridge, Wide nasal bridge, Broad columella,... |
ORPHA:3255 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Micropenis, Short nose, Prominent nasal bridge |
OMIM:613870 |
Achondrogenesis Type 1B |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93298 |
Mental Retardation, Autosomal Recessive 5 |
|
Underdeveloped nasal alae, Wide nasal bridge, Prominent nasal bridge, Prominent nose |
OMIM:611091 |
Beemer-Ertbruggen Syndrome |
|
Bulbous nose, Cryptorchidism, Ambiguous genitalia, Wide nasal bridge |
ORPHA:1237 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micropenis, Ambiguous genitalia, Depressed nasal bridge, Wide nasal bridge |
OMIM:614969 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Anteverted nares, Cryptorchidism, Shawl scrotum, Umbilical hernia |
ORPHA:915 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Myelomeningocele, Short nose, Anteverted nares, Choanal atresia |
ORPHA:1914 |
Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Umbilical hernia |
ORPHA:380 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Ambiguous genitalia, Depressed nasal bridge, Short nose |
ORPHA:1913 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Depressed nasal bridge, Amenorrhea, Wide nasal bridge, Increased circulating gonadotropin level, ... |
OMIM:110100 |
Achondrogenesis Type 1A |
|
Anteverted nares, Short nose, Umbilical hernia |
ORPHA:93299 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge |
OMIM:618658 |
Pentasomy X |
|
Wide nasal bridge, Delayed puberty |
ORPHA:11 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Short nose, Precocious puberty |
OMIM:619356 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Wide nose, Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:613457 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism |
OMIM:618316 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Wide nasal bridge |
ORPHA:352530 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Broad nasal tip, Depressed nasal bridge, Wide nasal bridge, Pseudohypoparathyroidism, Anteverted ... |
OMIM:617157 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Rafiq Syndrome |
|
Underdeveloped nasolabial fold, Prominent nose, Wide nose, Wide nasal bridge, Bulbous nose |
OMIM:614202 |
8Q22.1 Microdeletion Syndrome |
|
Depressed nasal ridge, Wide nasal bridge, Hypogonadism, Cryptorchidism, Abnormality of the nares |
ORPHA:178303 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short nose, Prominent nasal bridge |
OMIM:300558 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Wide nasal bridge, Cryptorchidism, Shawl scrotum, Umbilical hernia |
ORPHA:1778 |
Chromosome 10Q26 Deletion Syndrome |
|
Prominent nose, Convex nasal ridge, Flared nostrils, Wide nasal bridge, Micropenis, Cryptorchidism |
OMIM:609625 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Wide nasal bridge, Micropenis, Anteverted nares, Hydrocele testis |
OMIM:618810 |
Multiple Metaphyseal Dysplasia |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:93430 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... |
ORPHA:273 |
Treacher-Collins Syndrome |
|
Branchial fistula, Facial cleft, Patent ductus arteriosus |
ORPHA:861 |
Orofaciodigital Syndrome Xviii |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:617927 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Wide nasal bridge |
OMIM:618402 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Abnormality of the urethra, Short nose |
ORPHA:2145 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Short nose, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Umbilical hernia |
OMIM:616638 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Anteverted nares, Cryptorchidism, Wide nasal bridge |
OMIM:611209 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose |
ORPHA:1495 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Bulbous nose, Cryptorchidism, Umbilical he... |
ORPHA:369891 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Prominent nose, Depressed nasal bridge, Wide nasal bridge, Bulbous nose, Anteverted nares |
ORPHA:2180 |
Mental Retardation, Buenos Aires Type |
|
Hypospadias, Prominent nose, Wide nasal bridge |
OMIM:249630 |
Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge |
OMIM:614541 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Wide nasal bridge |
ORPHA:93267 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Short columella, Wide nasal bridge, Bifid nose, Bifid nasal tip |
OMIM:136760 |
Woods Syndrome |
|
Low hanging columella, Wide nasal bridge, Supernumerary nipple |
OMIM:615236 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Wide nasal bridge, Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Umbilical ... |
ORPHA:85321 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Short nose, Broad nasal tip, Wide nasal bridge |
OMIM:614207 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:618356 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge |
ORPHA:77300 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Prominent nasal tip, Depressed nasal bridge, Wide nasal bridge, Hypogonadism, Micropenis, Recurre... |
OMIM:612513 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short nose, Wide nasal bridge, Broad nasal tip |
OMIM:618529 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Underdeveloped nasal alae, Recurrent bronchitis, Labial hypoplasia, Wide nose, Wide ... |
OMIM:619293 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Hypoplasia of penis |
ORPHA:2547 |
Zechi-Ceide Syndrome |
|
Underdeveloped nasal alae, Wide nose, Wide nasal bridge |
OMIM:612916 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Narrow nose, Depressed nasal bridge, Umbilical hernia, Short nose, Prominent nasal bridge, Wide n... |
OMIM:618454 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Short nose, Wide nasal bridge |
OMIM:613603 |
Al-Raqad Syndrome |
|
Short nose |
OMIM:616459 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Broad nasal tip, Narrow nasal ridge |
OMIM:137550 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Broad nasal tip, Short nose, Prominent nasolabial fold, Recurrent upper respiratory tract infecti... |
ORPHA:391372 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short nose, Anteverted nares, Spina bifida, Depressed nasal bridge |
ORPHA:1327 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge |
OMIM:618205 |
Autosomal Recessive Omodysplasia |
|
Anteverted nares, Cryptorchidism, Short nose, Depressed nasal bridge |
ORPHA:93329 |
Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:398073 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Convex nasal ridge, Wide nasal bridge |
OMIM:314320 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal ridge, Short nose, Depressed nasal bridge |
OMIM:618774 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:618961 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Charlie M Syndrome |
|
Wide nasal bridge |
ORPHA:1406 |
Craniofrontonasal Dysplasia |
|
Hypospadias, Depressed nasal ridge, Wide nasal bridge, Shawl scrotum, Midline defect of the nose |
ORPHA:1520 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Large fontanelles, Brachycephaly, Exencephaly, Delayed cranial suture closure |
ORPHA:2211 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Wide nasal bridge |
OMIM:616025 |
Baraitser-Winter Syndrome 1 |
|
Short nose, Wide nasal bridge, Micropenis, Anteverted nares, Cryptorchidism |
OMIM:243310 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Underdeveloped nasal alae, Small scrotum, Short nose, Prominent nasal bridge, Cryptorchidism, Hyp... |
ORPHA:2083 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Large beaked nose, Wide nasal bridge |
ORPHA:3369 |
Klippel-Trénaunay Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal hemorrhage, Atria... |
ORPHA:90308 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:261295 |
Jung Syndrome |
|
Depressed nasal bridge, Wide nasal bridge, Hypothyroidism |
ORPHA:2321 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide nasal bridge |
OMIM:614859 |
Non-Distal Trisomy 13Q |
|
Cryptorchidism, Short nose |
ORPHA:1702 |
3Mc Syndrome 3 |
|
Facial cleft, Growth delay, Short stature |
OMIM:248340 |
6Q25 Microdeletion Syndrome |
|
External genital hypoplasia, Wide nasal bridge |
ORPHA:251056 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Wide nasal bridge, Prominent nasal bridge, Low hanging columella, Cryptorchidism |
OMIM:618659 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Short nose |
OMIM:613604 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Wide nasal bridge |
OMIM:614230 |
Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Short nose |
OMIM:613885 |
Mental Retardation, Autosomal Recessive 13 |
|
Wide nasal bridge |
OMIM:613192 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Short nose |
DECIPHER:52 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Bulbous nose, Short nose, Depressed nasal bridge |
OMIM:614105 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:619556 |
Trisomy 18P |
|
Underdeveloped nasal alae, Bilateral cryptorchidism, Wide nasal bridge |
ORPHA:1715 |
Wiedemann-Steiner Syndrome |
|
Wide nose, Depressed nasal tip, Wide nasal bridge |
OMIM:605130 |
Mental Retardation, Autosomal Dominant 58 |
|
Wide nasal bridge |
OMIM:618106 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Right ventricular hypertrophy, Prolonged prothrombin time, Tachycardia, Subcut... |
ORPHA:335 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:301022 |
Martin-Probst Syndrome |
|
Hypoplastic nipples, Bifid scrotum, Chordee, Wide nasal bridge, Micropenis, Hypothyroidism, Crypt... |
OMIM:300519 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cryptorchidism, Short nose, Bifid scrotum |
ORPHA:1912 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Wide nasal bridge, Primary adrenal insufficiency |
ORPHA:44 |
Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617988 |
Metaphyseal Acroscyphodysplasia |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:1240 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Wide nose, Short nose |
ORPHA:2831 |
Frank-Ter Haar Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia |
ORPHA:137834 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge |
OMIM:222765 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Atrioventricul... |
ORPHA:453499 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose |
OMIM:300887 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Femoral-Facial Syndrome |
|
Short nose, Cryptorchidism, Maternal diabetes, Long penis |
ORPHA:1988 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Intrauterine growth retardation, Facial cleft, Patent foramen ovale |
OMIM:263650 |
Holoprosencephaly 1 |
|
Facial cleft, Short stature, Single ventricle, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Short nose, Wide nasal bridge |
OMIM:618437 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Prominent nose, Bulbous nose, Wide nasal bridge |
OMIM:614067 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Short nose |
ORPHA:1895 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Depressed nasal bridge, Short nose, Wide nasal bridge, Micropenis, Abnormal nasal ... |
ORPHA:363659 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Hypospadias, Underdeveloped nasal alae, Bifid scrotum, Short nose, Wide nasal bridge, Anteverted ... |
OMIM:613026 |
Hyperphosphatasia With Mental Retardation Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge |
OMIM:615716 |
Noonan Syndrome 6 |
|
Cryptorchidism, Depressed nasal bridge, Wide nasal bridge |
OMIM:613224 |
Craniosynostosis 4 |
|
Flat occiput, Lambdoidal craniosynostosis, Anterior plagiocephaly, Frontal bossing, Posterior pla... |
OMIM:600775 |
Waardenburg-Shah Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Prominent nasal bridge, Abnormality of the nose |
ORPHA:897 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Testicular torsion, Cryptorchidism, Wide nasal bridge |
ORPHA:75496 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Anteverted nares, Cryptorchidism, Depressed nasal bridge, Wide nasal bridge |
ORPHA:163654 |
Gms Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:138770 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Cryptorchidism, Wide nasal bridge |
ORPHA:98791 |
8Q12 Microduplication Syndrome |
|
Wide nasal bridge |
ORPHA:228399 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Wide nasal bridge, Prominent nasal bridge |
OMIM:618009 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Bulbous nose, Short nose, Depressed nasal bridge, Prominent nasal bridge |
OMIM:618828 |
Micro Syndrome |
|
Hypoplastic labia minora, Short nose, Wide nasal bridge, Anteverted nares, Clitoral hypoplasia, C... |
ORPHA:2510 |
Verheij Syndrome |
|
Short nose, Wide nasal bridge |
OMIM:615583 |
Fraser Syndrome 1 |
|
Abnormal heart morphology, Facial cleft, Hydrocephalus, Myelomeningocele |
OMIM:219000 |
Cantu Syndrome |
|
Anteverted nares, Wide nasal bridge, Depressed nasal bridge, Umbilical hernia |
OMIM:239850 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Wide nasal bridge |
OMIM:218000 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Underdeveloped nasal alae, Short nose, Wide nasal bridge, Spina bifida |
ORPHA:894 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:93946 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Wide nasal bridge, Cryptorchidism, Umbilical hernia |
OMIM:601499 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Wide nasal bridge |
ORPHA:1278 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplastic nipples, Depressed nasal bridge, Labial hypoplasia, Short nose, Wide nasal bridge, Mi... |
OMIM:608156 |
Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Short nose, Prominent nasal bridge, Micropenis, Cryptorchidism |
OMIM:614225 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Prominent nose, Elevated circulating parathyroid hormone level, Prominent nasal tip,... |
ORPHA:439822 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:220220 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Bulbous nose, Wide nasal bridge |
ORPHA:261304 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Waardenburg Syndrome, Type 2A |
|
Underdeveloped nasal alae, Wide nasal bridge |
OMIM:193510 |
Constricting Bands, Congenital |
|
Ectopia cordis, Facial cleft |
OMIM:217100 |
Scarf Syndrome |
|
Hypoplastic nipples, Bifid scrotum, Prominent nasal bridge, Wide nasal bridge, Micropenis, Perine... |
OMIM:312830 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Hypospadias, Bifid scrotum, Wide nasal bridge |
ORPHA:66629 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge |
ORPHA:168486 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge |
OMIM:617333 |
Microform Holoprosencephaly |
|
Maternal diabetes, Midnasal stenosis, Short nose, Ambiguous genitalia, Panhypopituitarism, Narrow... |
ORPHA:280200 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose |
OMIM:615042 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short nose |
ORPHA:228384 |
Spinocerebellar Ataxia With Dysmorphism |
|
Anteverted nares, Short nose |
OMIM:271270 |
Benign Samaritan Congenital Myopathy |
|
Wide nasal bridge |
ORPHA:324581 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Shawl scrotum, Wide nasal bridge, Glandular hypospadias |
ORPHA:2575 |
Joubert Syndrome 28 |
|
Wide nasal bridge |
OMIM:617121 |
Kosaki Overgrowth Syndrome |
|
Wide nasal bridge |
OMIM:616592 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Short nose, Delayed puberty |
ORPHA:496790 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Coffin-Siris Syndrome 9 |
|
Underdeveloped nasal alae, Depressed nasal bridge, Long nose, Short nose, Abnormality of the colu... |
OMIM:615866 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:253250 |
Opitz Gbbb Syndrome, Type I |
|
Hypospadias, Wide nasal bridge, Abnormal nasopharynx morphology, Anteverted nares, Cryptorchidism |
OMIM:300000 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Short nose, Diabetes mellitus, Hypothyroidism, Anteverted nares, Delayed puberty |
ORPHA:391408 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Anteverted nares, Wide nose, Short nose, Depressed nasal bridge |
OMIM:613320 |
Trisomy 8Q |
|
Myelomeningocele, Wide nasal bridge, Displacement of the urethral meatus, Cryptorchidism, Hypopla... |
ORPHA:1752 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Cryptorchidism, Short nose, Delayed puberty |
ORPHA:3121 |
Down Syndrome |
|
Depressed nasal ridge, Type II diabetes mellitus, Depressed nasal bridge, Short nose, Hypothyroid... |
ORPHA:870 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Triangular nasal tip, Micropenis, Antever... |
OMIM:141750 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Anteverted nares, Spina bifida occulta |
ORPHA:1185 |
Radio-Tartaglia Syndrome |
|
Prominent nasal tip, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Bulbous n... |
OMIM:619312 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Gonadal dysgenesis, male, Wide nasal bridge, Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2075 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Choanal atresia, Short nose, Depressed nasal bridge |
ORPHA:284169 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Short nose, Decreased fertility |
OMIM:234050 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
Holoprosencephaly |
|
Ventricular septal defect, Holoprosencephaly, Branchial anomaly, Hydrocephalus, Tetralogy of Fall... |
ORPHA:2162 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Wide nasal bridge |
OMIM:601450 |
Donnai-Barrow Syndrome |
|
Broad nasal tip, Depressed nasal bridge, Short nose, Bicornuate uterus, Umbilical hernia |
OMIM:222448 |
Simosa Craniofacial Syndrome |
|
Underdeveloped nasal alae, Depressed nasal tip, Wide nasal bridge, Long nose |
OMIM:182150 |
Helsmoortel-Van Der Aa Syndrome |
|
Broad nasal tip, Short nose, Wide nasal bridge, Anteverted nares, Decreased response to growth ho... |
OMIM:615873 |
Codas Syndrome |
|
Anteverted nares, Short nose, Depressed nasal bridge, Midline defect of the nose |
ORPHA:1458 |
Liang-Wang Syndrome |
|
Wide nasal bridge |
OMIM:618729 |
Alg2-Cdg |
|
Wide nasal bridge |
ORPHA:79326 |
Man1B1-Cdg |
|
Underdeveloped nasolabial fold, Prominent nose, Wide nose, Wide nasal bridge |
ORPHA:397941 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:1522 |
Harel-Yoon Syndrome |
|
Short nose |
OMIM:617183 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bulbous nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:601110 |
Lig4 Syndrome |
|
Large beaked nose, Type II diabetes mellitus, Wide nasal bridge, Hypothyroidism, Cryptorchidism, ... |
ORPHA:99812 |
Frontonasal Dysplasia 2 |
|
Depressed nasal ridge, Depressed nasal bridge, Wide nasal bridge, Broad columella, Bifid nasal tip |
OMIM:613451 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Short nose |
ORPHA:163961 |
Waardenburg Syndrome |
|
Underdeveloped nasal alae, Abnormal vagina morphology, Myelomeningocele, Prominent nasal bridge, ... |
ORPHA:3440 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Wide nasal bridge |
OMIM:309620 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Wide nasal bridge, Anteverted nares, Cryptorchidism, Abnormal nasal morph... |
ORPHA:404440 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Short nose |
OMIM:614524 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Short nose, Wide nasal bridge, Cryptorchidism, Spina bifida occulta |
OMIM:193700 |
Stickler Syndrome Type 1 |
|
Short nose |
ORPHA:90653 |
Bartsocas-Papas Syndrome |
|
Short nose, Underdeveloped nasal alae, Ambiguous genitalia, Hypoplastic male external genitalia |
ORPHA:1234 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Wide nasal bridge, Diabetes insipidus |
OMIM:611087 |
Macrocephaly/Autism Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:605309 |
Meier-Gorlin Syndrome 6 |
|
Hypoplastic labia majora, Underdeveloped nasal alae, Depressed nasal ridge, Depressed nasal bridg... |
OMIM:616835 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Short nose, Wide nasal bridge, Micropenis, Anteverted nares |
OMIM:616897 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Micropenis, Short nose, Depressed nasal bridge |
OMIM:617822 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Anteverted nares, Short nose, Underdeveloped nasal alae |
ORPHA:2031 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Small scrotum, Wide nasal bridge, Cryptorchidism |
ORPHA:1970 |
Roifman-Chitayat Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Umbilical hernia |
OMIM:613328 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Prominent nose, Depressed nasal bridge, Decreased serum insulin-like growth factor 1... |
ORPHA:363528 |
Okur-Chung Neurodevelopmental Syndrome |
|
Anteverted nares, Wide nasal bridge |
OMIM:617062 |
Lowry-Maclean Syndrome |
|
Hypospadias, Convex nasal ridge, Short nose, Bilateral cryptorchidism, Choanal atresia, Short nas... |
ORPHA:2409 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Anteverted nares, Wide nasal bridge |
ORPHA:50812 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Narrow nose, Long nose, Short nose, Cryptorchidism |
OMIM:617602 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Wide nasal bridge, Low hanging columella, Bulbous nose, Hydrocele testis |
OMIM:619493 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Short nose, Bifid nasal tip |
OMIM:616854 |
Odontochondrodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:166272 |
Bainbridge-Ropers Syndrome |
|
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Short nose, Short columella, ... |
OMIM:615485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Depressed nasal bridge, Prominent nasal bridge, Wide nasal bridge, Anteverted nares,... |
OMIM:300260 |
Axenfeld-Rieger Syndrome |
|
Hypospadias, Abnormality of the hypothalamus-pituitary axis, Wide nasal bridge, Depressed nasal b... |
ORPHA:782 |
Temple-Baraitser Syndrome |
|
Depressed nasal bridge, Wide nose, Wide nasal bridge, Anteverted nares, Thick nasal alae |
ORPHA:420561 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Underdeveloped nasal alae, Long nose, Small scrotum, Wide nasal bridge, Cryptorchidism |
ORPHA:1968 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Micropenis, Wide nasal bridge |
OMIM:615966 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Tetrasomy 18P |
|
Short nose |
ORPHA:3307 |
Smith-Magenis Syndrome |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Hypothyroidism, Anteverted nares, Precocio... |
ORPHA:819 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617102 |
Peroxisome Biogenesis Disorder 2B |
|
Anteverted nares, Adrenal insufficiency, Wide nasal bridge |
OMIM:202370 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Depressed nasal bridge, Short nose, Micropenis, Anteverted nares, Cryptorchidism, Sh... |
OMIM:301040 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Abnormal nasopharynx morphology, Nasal congestion, Bony paranasal bossing, Wide nasal bridge |
OMIM:218400 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hypoplastic nipples, Wide nasal bridge, Depressed nasal bridge |
OMIM:618505 |
Trisomy 12P |
|
Short nose, Wide nasal bridge, Supernumerary nipple |
ORPHA:1699 |
Otopalatodigital Syndrome Type 1 |
|
Depressed nasal bridge, Wide nasal bridge |
ORPHA:90650 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Wide nasal bridge, Long nose, Prominent nasal bridge, Hydrocele testis |
OMIM:137940 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short nose, Anteverted nares, Spina bifida occulta |
OMIM:617877 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge |
ORPHA:89844 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Anteverted nares, Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:602613 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia |
OMIM:614886 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Short nose, Wide nasal bridge, Low hanging columella, Broad columella, Narrow nasal bridge, Antev... |
OMIM:619383 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal ridge, Wide nasal bridge |
ORPHA:2412 |
Sweeney-Cox Syndrome |
|
Underdeveloped nasal alae, Short columella, Wide nasal bridge, Bilateral cryptorchidism, Choanal ... |
OMIM:617746 |
Spinocerebellar Ataxia 47 |
|
Wide nasal bridge |
OMIM:617931 |
Craniofacial Microsomia |
|
Ventricular septal defect, Patent ductus arteriosus, Branchial anomaly, Hydrocephalus, Tetralogy ... |
OMIM:164210 |
Oculocerebrodental Syndrome |
|
Thick nasal alae, Depressed nasal bridge, Wide nasal bridge, Broad columella |
ORPHA:557003 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Prominent nose, Wide nasal bridge |
OMIM:606220 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short nose, Depressed nasal bridge |
OMIM:608776 |
Cardiospondylocarpofacial Syndrome |
|
Anteverted nares, Decreased testicular size, Wide nasal bridge |
OMIM:157800 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Hypospadias, Short nose, Wide nasal bridge, Micropenis, Cryptorchidism, Anteverted nares, Male ps... |
ORPHA:2282 |
Achondrogenesis, Type Ia |
|
Anteverted nares, Short nose, Depressed nasal bridge, Stillbirth |
OMIM:200600 |
Tetrasomy 12P |
|
Anteverted nares, Short nose |
ORPHA:884 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Sex reversal, Wide nasal bridge, Micropenis, Ambiguous genitalia, Adrenal hypoplasia... |
OMIM:612651 |
Chromosome 9P Deletion Syndrome |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Micropenis, Anteverted nares, Choanal atr... |
OMIM:158170 |
Pilodental Dysplasia With Refractive Errors |
|
Wide nasal bridge |
OMIM:262020 |
Focal Facial Dermal Dysplasia Type Iii |
|
Depressed nasal ridge, Wide nasal bridge |
ORPHA:1807 |
16P12.1P12.3 Triplication Syndrome |
|
Bulbous nose, Bilateral cryptorchidism, Short nose, Decreased response to growth hormone stimulat... |
ORPHA:485405 |
Distal Trisomy 5Q |
|
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Short nose, Prominent nasal bridge, Cryptorch... |
ORPHA:96097 |
3C Syndrome |
|
Hypospadias, Depressed nasal bridge, Short nose, Wide nasal bridge, Adrenal hypoplasia, Hypoplasi... |
ORPHA:7 |
Joubert Syndrome 3 |
|
Anteverted nares, Wide nasal bridge |
OMIM:608629 |
Zechi-Ceide Syndrome |
|
Wide nose, Wide nasal bridge |
ORPHA:217017 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Koolen-De Vries Syndrome |
|
Hypospadias, Underdeveloped nasal alae, Thick nasal alae, Prominent nasal bridge, Wide nasal brid... |
ORPHA:96169 |
Suleiman-El-Hattab Syndrome |
|
Cryptorchidism, Wide nasal bridge |
OMIM:618950 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Secundum atrial septal defect |
ORPHA:2260 |
Distal Monosomy 9P |
|
Hypospadias, Hypoplastic labia majora, Short nose, Wide nasal bridge |
ORPHA:1642 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Wide nasal bridge, Cryptorchidism, Prominent nasal bridge |
OMIM:617452 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormality of the thyroid gland |
OMIM:182290 |
Trisomy 20P |
|
Hypospadias, Macroorchidism, Short nose, Spina bifida, Anteverted nares, Cryptorchidism, Umbilica... |
ORPHA:261318 |
Meckel Syndrome 12 |
|
Anteverted nares, Vaginal atresia, Wide nasal bridge |
OMIM:616258 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short nose, Wide nasal bridge, Prominent nasal bridge, Cryptorchidism |
ORPHA:251071 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... |
ORPHA:261330 |
C Syndrome |
|
Short nose, Wide nasal bridge, Clitoral hypertrophy, Anteverted nares, Cryptorchidism |
OMIM:211750 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Developmental And Epileptic Encephalopathy 89 |
|
Hypoplastic labia minora, Hypoplastic labia majora, Depressed nasal bridge, Neonatal death, Wide ... |
OMIM:619124 |
Gomez-Lopez-Hernandez Syndrome |
|