| X-Linked Intellectual Disability, Stoll Type |
|
Hypoplastic nasal bridge, Anteverted nares, Short stature, Hypertelorism, Broad nasal tip, Long p... |
ORPHA:85326 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Hypertelorism, Decreased circulating osteocalcin level, Long philtrum, Short nose, Cen... |
OMIM:125700 |
| Atkin-Flaitz Syndrome |
|
Anteverted nares, Short stature, Hypertelorism, Broad nasal tip, Abnormality of the dentition, Ob... |
ORPHA:1193 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Short stature, Hypertelorism, Inability to walk... |
ORPHA:438178 |
| Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Abnormal palate morpholo... |
ORPHA:1200 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Delaye... |
ORPHA:217340 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Postnatal growth retardation, Wide nasal bridge, Serrated incisors, Pr... |
OMIM:272440 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short stature, Depressed nasal ridge, Narrow mouth, Short nose, Abnormal oral c... |
ORPHA:1355 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Hypertel... |
OMIM:122860 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Short stature, Hypertelorism, Micrognathia, High palate, Everted lower li... |
ORPHA:1695 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Hypertelorism, Broad nasal tip, Aggressive behavior, Self-injurious behavior, Compulsive behavior... |
OMIM:613670 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Ataxia, Hypertelorism, Diastema, Wide nasal bridge, Gingival overgrowth... |
OMIM:618729 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Hypertelorism, Deep philtrum, Deep... |
ORPHA:261120 |
| Rubinstein-Taybi Syndrome 2 |
|
Short stature, Micrognathia, Prominent nose, Carious teeth, Talon cusp, Dental malocclusion, Narr... |
OMIM:613684 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Deeply set eye, Gai... |
ORPHA:2429 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... |
OMIM:613038 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Cleft ala nasi, Hypertelorism, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridg... |
ORPHA:2007 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Short stature, Anteverted nares, Hypertelorism, Micrognathia, Bulbous n... |
OMIM:613604 |
| Perlman Syndrome |
|
Smooth philtrum, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Hyperinsulinemi... |
ORPHA:2849 |
| Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Broad nasal tip, High, narrow pala... |
ORPHA:166108 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia, Obesity |
OMIM:300577 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Proptosis, Thin vermilion border, Narrow mouth, Intrauterine growth retardation, S... |
ORPHA:2370 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Ataxia, Deeply set eye, Aminoaciduria, Thick vermilion border, Long philtrum, Short nose |
ORPHA:833 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, O... |
OMIM:300602 |
| Pierpont Syndrome |
|
Wide nose, Short stature, Broad nasal tip, Hypertelorism, Broad philtrum, Deeply set eye, Promine... |
OMIM:602342 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Hype... |
OMIM:617752 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Short stature, Micrognathia, Growth delay, Narrow mouth, Intrauterine growth re... |
ORPHA:1495 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Short stature, Prominent nasal bridge, Broad nasal tip, Hypertelorism, ... |
OMIM:613544 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Short stature, Aggressive ... |
OMIM:300558 |
| Diamond-Blackfan Anemia 8 |
|
Short stature, Hypertelorism, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion |
OMIM:612563 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypertelorism, High palate, Narrow mouth, Short nose, Tall stature |
ORPHA:217385 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Hypertelorism, Broad nasal ti... |
OMIM:137550 |
| Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Myelomeningocele, Hydro... |
ORPHA:1914 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Hypertelorism, Cleft palate, Thin vermilion border, Narrow mouth, Incisor macrodon... |
OMIM:615502 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hypertelorism, Broad... |
OMIM:619736 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Hypotelorism, Widely-spaced maxil... |
OMIM:619719 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Depressed nasal bridge, Abnormal dental morph... |
ORPHA:2025 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... |
ORPHA:1248 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
| Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, Inability to w... |
OMIM:613443 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Hypertelorism, Wide nasal bridge, Downturned corners ... |
OMIM:618067 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Cachexia, H... |
ORPHA:884 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Short stature, Dental crowding, Underdeveloped nasal alae, Long nose, ... |
OMIM:257850 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Hypoplasia of the m... |
ORPHA:1529 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Hypertelorism, Inability t... |
OMIM:615716 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Hypertelorism, Micrognathia, Obesity, Deeply set eye, Thin vermilion border, Hi... |
OMIM:617991 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Restlessness, Inguinal hernia, Flexion contracture, Short nose |
OMIM:618379 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Short nose, Short stature |
OMIM:245570 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Hypotelorism, Downturned corners of mouth, Oligodontia, Short philtrum, Hypothyroid... |
ORPHA:391408 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of ... |
ORPHA:363417 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... |
ORPHA:2409 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Hypertelorism, Carious teeth, Deep philtrum, Thick lower lip ver... |
ORPHA:2701 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Ataxia, Inability to walk, Choreoathetosis, Prominent nasal tip, Short ... |
OMIM:618218 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Dysphagia, Death in adolescence, Pulmonary arterial hypertension, Still... |
OMIM:619751 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Hypertelorism, Wide nasal bridge, Long p... |
OMIM:616430 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Anteverted nares, Ataxia, Dental crowding, Hypertelorism, Micrognathia, Pierre... |
OMIM:617201 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
| Acromicric Dysplasia |
|
Severe short stature, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Sh... |
ORPHA:969 |
| Miller-Dieker Syndrome |
|
Anteverted nares, Ataxia, Growth delay, Abnormal upper lip morphology, Short nose |
ORPHA:531 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Overweight, Hypertelorism, Recurrent u... |
ORPHA:391372 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short stature, Cachexia, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Hypertelorism, Micrognathia, Wide nasal bridge, Proptosis, Long philtrum, Short... |
OMIM:618577 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Hypertelorism, Micrognathia, Cleft palate, Intrauterine growth retardation, Short ... |
ORPHA:2145 |
| Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Sma... |
OMIM:216550 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion contracture, In... |
OMIM:613870 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Short stature, Short nose, R... |
ORPHA:166272 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Short stature, Congenital diaphragmatic hernia, Hypertelorism, Pulmonary arter... |
OMIM:300887 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deeply set eye, Short philtrum, ... |
ORPHA:819 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Micrognathia, Narrow mouth, Wide nasal bridge, Obesity, Hypoplasia of teeth, Narro... |
OMIM:620250 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose, Delayed puberty |
ORPHA:2598 |
| Aarskog-Scott Syndrome |
|
Decreased serum testosterone concentration, Increased upper to lower segment ratio, Anteverted na... |
OMIM:305400 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Wide nasal bridge, Hypopla... |
OMIM:249620 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Recurrent upper respiratory tract infect... |
OMIM:614069 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m... |
ORPHA:439822 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick... |
OMIM:618506 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Depressed nasal bridge, Micrognathia, Hypertelorism, Long philtrum, Malar flattening,... |
ORPHA:93328 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Hypertelorism, Short nose, Op... |
OMIM:300143 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Obesity, Cong... |
OMIM:614613 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Hypertelorism, Optic atrophy, Wide nasal bridge, Cardiomyopa... |
OMIM:618437 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Thin upper lip vermilion, Micrognathia, Hypotelorism, High palate, Short nose |
OMIM:615042 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism, Micrognathia, ... |
OMIM:242860 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Postnatal growth retardation, Optic atro... |
OMIM:615419 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Anteverted nares, Ataxia,... |
ORPHA:438216 |
| Trisomy 12P |
|
Short stature, Hypertelorism, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners o... |
ORPHA:1699 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Hypertelorism, Choanal ... |
OMIM:619859 |
| Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Hypertelorism |
ORPHA:221054 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Short stature, Hypertelorism, Inability to walk, Bulbous nose, Deep philtrum, ... |
OMIM:618571 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Attention deficit hyperactiv... |
OMIM:620292 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Hypertelorism, Multiple lipomas, Attention deficit hyperactivity disorder... |
ORPHA:210548 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Depress... |
OMIM:618774 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Short stature, Malar flattening, Narrow palate, Short upper lip, Deeply se... |
ORPHA:364028 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short... |
ORPHA:950 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Short stature, Micrognathia, Microglo... |
OMIM:241800 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, Obesity, Short columella, ... |
ORPHA:171839 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
| 5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Deeply set eye, Short nose, Abnormal repetitive mannerisms |
ORPHA:228384 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, Bulbous nose... |
OMIM:614105 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Inability to walk, Gait ataxia, Deeply set eye, Narrow mouth, Short nose |
OMIM:616459 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Deeply set eye, Choanal stenosis, High palate, Death in infancy, D... |
OMIM:615485 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Depressed nasal bridge, Short stature, Anteverted nares, Open bite, Abnorm... |
ORPHA:1327 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ... |
ORPHA:2835 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Short stature, Depressed nasal bridge, Ataxia, Hypertelorism, Bulbous nose... |
ORPHA:369891 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Short nose, Depressed nasal bridge, Hypertelorism |
OMIM:616910 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth... |
OMIM:615866 |
| Marshall Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism, Micrognathia, Absent fron... |
OMIM:154780 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Proptosis, Narrow mouth, Short nose |
OMIM:614078 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Hypertelorism, Micrognathia,... |
OMIM:618529 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Tricuspid regurgitation, Anteverted nares, Short stature, Camptodactyly of finger,... |
ORPHA:261211 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Bradycardia, Ca... |
OMIM:610015 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Hypertelorism, Postnatal growth retard... |
OMIM:243310 |
| Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Anteverted nares, Decreased response to growth hormone stimulation test, Short stature, H... |
OMIM:601853 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism,... |
OMIM:616331 |
| Peho-Like Syndrome |
|
Short nose, Retrognathia, Open mouth |
OMIM:617507 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Proptosis, Death in childhood, Short nose |
OMIM:618961 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Deeply set eye, Short nose |
OMIM:617183 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ataxia, Depressed nasal bridge, Open mouth,... |
OMIM:618430 |
| Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... |
OMIM:302350 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Narrow m... |
OMIM:619356 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Short stature, Micrognathia |
ORPHA:1514 |
| Marshall Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism, Micrognathia, Hypoplasia ... |
ORPHA:560 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Ataxia, Hypertelorism, Inability to walk, Dysmetria, Deeply set eye, Short... |
OMIM:618087 |
| Verheij Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Small for gestational age, Broad nasal... |
OMIM:615583 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Short stature, Anteverted nares, H... |
OMIM:145420 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Hypertelorism, Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Hypertelorism, Bifid nasal tip, Non-midli... |
ORPHA:1791 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Insulin-resistant di... |
OMIM:608612 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Short stature, Micrognathia, Depressed nasal ridge, Wide mouth, Sho... |
ORPHA:163966 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Depressed nasal bridge, Ataxia, Unsteady gait, Downturned corners of mouth, Wid... |
OMIM:617865 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth retardation, Microgn... |
OMIM:613026 |
| Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micrognathia, Disproportionate short stature, Long philtr... |
ORPHA:93298 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
| Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Hypotelorism, Long philtrum, Short nose |
OMIM:190440 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Deeply set ... |
OMIM:618828 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hypertelorism, Hydrocephalus, Dysphagia, Short nose, Thick nasal alae |
ORPHA:163961 |
| Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Choanal stenosis, High palate, Neonatal death, Microdontia, ... |
OMIM:259775 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Diabetes mellitus, Short stature, Underdeveloped nas... |
ORPHA:2315 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Short stature |
OMIM:620062 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Wide nose, Depressed nasal bridge, Short stature, Anteverted nares, Postnatal g... |
OMIM:613320 |
| Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal dental morpholo... |
ORPHA:1716 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Proptosis, U... |
ORPHA:2143 |
| Codas Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Short stature, Anteverted nares, Abnormal dent... |
ORPHA:1458 |
| Desbuquois Dysplasia 1 |
|
Waddling gait, Microretrognathia, Severe short stature, Depressed nasal bridge, Obesity, Growth d... |
OMIM:251450 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Ataxia, Depressed nasal bridge, Short stature, Hypertelorism, Microgn... |
OMIM:619833 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Cleft palate, Proptosis, Long philtrum, Short nose |
ORPHA:90653 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Hypertelorism, Inability to wa... |
OMIM:619383 |
| Achondrogenesis |
|
Severe short stature, Anteverted nares, Micrognathia, Long philtrum, Short nose |
ORPHA:932 |
| Non-Distal Duplication 13Q |
|
Micrognathia, Abnormality of the dentition, Hypotelorism, Thin vermilion border, High palate, Eve... |
ORPHA:1702 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Dermotrichic Syndrome |
|
Short nose, Aminoaciduria, Depressed nasal bridge, Proportionate short stature |
ORPHA:99688 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Gait ataxia, Deeply set eye, Delayed puberty, Short nose, Sp... |
ORPHA:496790 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge |
OMIM:614564 |
| Fetal Hydantoin Syndrome |
|
Short stature, Hypertelorism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip ... |
ORPHA:1912 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Long philtrum... |
ORPHA:401935 |
| Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, Hypertelorism, ... |
OMIM:252100 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... |
ORPHA:1895 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Ataxia, Prominent nose, Postnatal... |
OMIM:156200 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Short stature, Hypertelorism, Hypoplasia of the maxilla, Cl... |
OMIM:614261 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Hypertelorism, Protruding tongue, Gingival overgrowth, Retrogn... |
ORPHA:561 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Short stature, Optic atrophy, Proptosis, Short nose, Spina bifida occulta |
ORPHA:1185 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge, Hypertelori... |
OMIM:235510 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Aggressive behavior, Bulbous nose, Deeply set eye, Pulmo... |
ORPHA:284169 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Anteverted nares, Hypertelorism, Postnatal growth retardation, Congestive he... |
ORPHA:3309 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Hypertelorism, Large for gestationa... |
OMIM:616638 |
| Even-Plus Syndrome |
|
Severe short stature, Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose |
OMIM:616854 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Hypertelorism, Velopharyngeal insuffic... |
OMIM:614701 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Shoulder flexion contracture, Ab... |
OMIM:193700 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Hypertelorism, Decreased nerve conduction velocity, Fl... |
OMIM:218000 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Inability to walk, Bulbous nose, Thin vermilion border, Long philtrum, Malar fl... |
OMIM:616420 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Rhizomelia, Depressed nasal ridge, Short nose |
ORPHA:2831 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Hypertelorism, Anosmia, Hypoplasia of th... |
ORPHA:1295 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion... |
OMIM:619854 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Short stature, Dental crowding, Long nose, Carious teeth, Downturned corners of ... |
OMIM:617602 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom... |
OMIM:618316 |
| Tetrasomy 18P |
|
Thin vermilion border, Gait disturbance, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Hypertelorism, Protruding tongue, Wide nasal bridge, Gingi... |
OMIM:619179 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Hypertelorism... |
OMIM:613457 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Overgrowth, Everted lo... |
OMIM:614753 |
| Achondrogenesis Type 1A |
|
Severe short stature, Anteverted nares, Micrognathia, Long philtrum, Short nose |
ORPHA:93299 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Non-midline cleft lip, C... |
ORPHA:1915 |
| 3C Syndrome |
|
Death in infancy, Inguinal hernia, Depressed nasal bridge, Short stature, Hypertelorism, Postnata... |
ORPHA:7 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hypertelorism, Cleft palate, Deeply se... |
ORPHA:1812 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Hypertelorism, Micrognathia, B... |
OMIM:617061 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Short stature, Rhi... |
OMIM:614114 |
| Poikiloderma With Neutropenia |
|
Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Hypertelorism, Micrognathia, Ca... |
OMIM:604173 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Akinesia, Hypertelorism, M... |
OMIM:608013 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped n... |
OMIM:300912 |
| Autosomal Recessive Omodysplasia |
|
Rhizomelia, Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Long philtrum,... |
ORPHA:93329 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypertelorism, H... |
OMIM:101600 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Short stature, Pierre-Robin sequence... |
OMIM:617877 |
| Distal Duplication 5Q |
|
Short stature, Prominent nasal bridge, Micrognathia, Hypertelorism, Carious teeth, Thin vermilion... |
ORPHA:96097 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... |
ORPHA:2751 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Broad-based gait, Dental crowding, Prominent nasal bridge, Abnormality of upper lip ve... |
ORPHA:251028 |
| Down Syndrome |
|
Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio... |
ORPHA:870 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Hypertelorism, Mitral regurgitation, Atrophic scars, Camptodactyly, Short nose |
OMIM:615539 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Hypertelorism, Wide mouth, Long philtrum, Short nose, Failure to thrive |
OMIM:608776 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Cleft palate, Downturned c... |
ORPHA:163649 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short stature, Maternal diabetes, Micrognathia, Orofacial cleft, Cleft ... |
ORPHA:1988 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Short stature, Broad nasal tip, Hypertelorism, Inability to walk, Wid... |
OMIM:614207 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Hypertelorism, Micr... |
OMIM:601812 |
| 16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Bulbous nose, Retrogn... |
ORPHA:485405 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Hypertelorism, Micrognathia, Concave nasal ridge, Proptosis, High palate,... |
OMIM:170100 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Narrow naris, Malar flattening,... |
OMIM:122880 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Short stature, Prominent nasal bridge, Failure to thrive in infancy, Hyperte... |
ORPHA:1225 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Hypotelorism, Deeply set eye, Broad columella, Anteverted na... |
ORPHA:2710 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... |
OMIM:614732 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Broad... |
OMIM:239300 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Anteverted nares, Broad nasal tip, Postnatal growth retardation, Hypertelorism, Ca... |
ORPHA:357074 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Gliosis |
OMIM:256600 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Short stature, Abnormality of the dentition, Carious teeth, Abnormal palate mo... |
ORPHA:1786 |
| Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Short nose, Micrognathia, Hypertelorism |
OMIM:266810 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Hypertelori... |
OMIM:300749 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Deeply set eye, Thin vermilion border, Hypogonadism, Short philtrum,... |
ORPHA:2983 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Short nose, Short stature |
ORPHA:289266 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Anteverted nares, Micrognathia, De... |
ORPHA:444072 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Growth d... |
ORPHA:261144 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Hypertelorism, Bulbous ... |
OMIM:616788 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Depressed nasal bridge, Anteverted nares, Short s... |
ORPHA:97360 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, S... |
OMIM:618454 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short nose, Depressed nasal ridge |
OMIM:613885 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, High palate, Intrauterine growth retardation, Short nose |
ORPHA:1913 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Hypertelorism, High, narrow palate, Proptosis, Short philtrum,... |
ORPHA:3258 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Hypertelorism, Depressed nasal ridge, Wide nasal bridge, Exencephaly, Proptosis |
ORPHA:2211 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Anteverted nares, Hypertelorism, Micrognathia, Wide nasal bridge, Clef... |
OMIM:616897 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Hypertelorism, Cleft palate, Proptosis, Hypoplasia of the zygo... |
ORPHA:83 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Proptosis, Ch... |
ORPHA:1790 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Ma... |
ORPHA:79113 |
| 8P23.1 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Obesity, Weight loss, Gro... |
ORPHA:251071 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Disproportionate short-limb short stature |
OMIM:618618 |
| Distal Deletion 10Q |
|
Thin upper lip vermilion, Short stature, Prominent nasal bridge, Ataxia, Prominent nose, Postnata... |
ORPHA:96148 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilio... |
OMIM:620114 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Prominent nose, Micrognathia, High, narrow palate, Hypoplas... |
OMIM:180849 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Hypotelorism, High pa... |
ORPHA:329178 |
| Toluene Embryopathy |
|
Short stature, Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose,... |
ORPHA:1920 |
| Otopalatodigital Syndrome, Type I |
|
Short stature, Selective tooth agenesis, Hypertelorism, Absent frontal sinuses, Wide nasal bridge... |
OMIM:311300 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Hydrocephalus, Depressed nasal ridge, Intrauterine growth retardation,... |
OMIM:300863 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tented philtrum, Wide nasal... |
ORPHA:363659 |
| Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Inability to walk, Gait ataxia, Growth delay, Wide mo... |
OMIM:103050 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism, Micrognathia, Cleft lip, ... |
OMIM:616894 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Hyp... |
OMIM:211380 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Scissor gait, Bradykinesia, Loss of ambulation, Macrodontia of permanent maxillary central inciso... |
ORPHA:466722 |
| Distal Deletion 9P |
|
Hypertelorism, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate... |
ORPHA:1642 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Depressed nasal bridge, A... |
OMIM:166250 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Short philtrum |
ORPHA:85277 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Inability to walk, Short nose |
OMIM:617802 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin seq... |
ORPHA:1358 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Depressed nasal bridge, Short stature, Ataxia, Small for gestational age, Hypotelorism, Wide mout... |
OMIM:300661 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Growth delay, Intrauterine growt... |
ORPHA:2083 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:610829 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Growth dela... |
OMIM:615803 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Camptodactyly of finger, Self-injurious ... |
ORPHA:261236 |
| Boomerang Dysplasia |
|
Severe short stature, Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neo... |
OMIM:112310 |
| Fibrochondrogenesis 1 |
|
Rhizomelia, Depressed nasal bridge, Anteverted nares, Cleft palate, Stillbirth, Proptosis, Narrow... |
OMIM:228520 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Ataxia, Selective tooth agenesis, Underdeveloped nasal ala... |
OMIM:164200 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Cleft upper lip, Postnatal growth retardation, Deep philtrum, Flared nost... |
OMIM:206920 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, S... |
ORPHA:261494 |
| Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Postnatal growth retardation, Flexion contracture, Optic atrophy, Deeply ... |
OMIM:614225 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Micrognathia, Abnormality of the dentition, Narrow mouth, Proptosis, Delayed puber... |
ORPHA:90154 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Short stature, Anteverted nares, Small for gestational age, Po... |
OMIM:257300 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Inability to walk, Triangular mouth, Dysmetria, Gait at... |
OMIM:617988 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, High palate, Narrow mouth, Intrauterine growth retardation, Shor... |
OMIM:219200 |
| Ruvalcaba Syndrome |
|
Dental crowding, Narrow mouth, Thin vermilion border, Delayed puberty, Intrauterine growth retard... |
ORPHA:3121 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Optic atrophy, Severe postnatal growth retardation,... |
ORPHA:3078 |
| W Syndrome |
|
Depressed nasal bridge, Hypertelorism, Broad nasal tip, Submucous cleft hard palate, Agenesis of ... |
ORPHA:2804 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, Deeply set eye... |
ORPHA:357001 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hy... |
OMIM:301040 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Ataxia, Anteverted nares, Large for gestational age, Abnormality of the d... |
OMIM:615398 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Micro Syndrome |
|
Anteverted nares, Short stature, Micrognathia, Wide nasal bridge, High palate, Short philtrum, De... |
ORPHA:2510 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, S... |
ORPHA:894 |
| Cerebrooculonasal Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Hypertelorism,... |
OMIM:605627 |
| Atelosteogenesis, Type I |
|
Rhizomelia, Depressed nasal bridge, Hypertelorism, Micrognathia, Cleft palate, Stillbirth, Propto... |
OMIM:108720 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... |
OMIM:616007 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Stillbirth, Disproportionate short-limb short stature, Malar flattening, Short nose |
OMIM:269250 |
| Trichothiodystrophy 2, Photosensitive |
|
Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hypertelorism, Abnor... |
OMIM:271510 |
| Rhombencephalosynapsis |
|
Microretrognathia, Anteverted nares, Ataxia, Hypertelorism, Narrow mouth, Short nose |
ORPHA:59315 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Short stature, Small fo... |
OMIM:268400 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Tented upper lip vermilion, Hypertelorism, Broad nasal tip, Wide nasal bridge, Cleft palate, Grow... |
OMIM:614749 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Tented upper lip vermilion, Depressed nasal bridge, Short stature, Hypertelorism, Thick vermilion... |
OMIM:616723 |
| Diaphanospondylodysostosis |
|
Depressed nasal bridge, Hypertelorism, Micrognathia, Depressed nasal ridge, Disproportionate shor... |
OMIM:608022 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Wide nasal bridge, Retrognathia, High palate, Intrauterine growth retardation, Sho... |
OMIM:618005 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Short stature, Micrognathia, Protruding tongue, Retrognathia, Growth... |
OMIM:608779 |
| Fibrochondrogenesis 2 |
|
Malar flattening, Short nose, Anteverted nares, Micrognathia |
OMIM:614524 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
| Deeah Syndrome |
|
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Anterior ... |
OMIM:619004 |
| Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism, Open bite, Abnormality of... |
OMIM:115150 |
| Holoprosencephaly 7 |
|
Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Median cleft palate, Hypoplasia of the pr... |
OMIM:610828 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertelorism, Growth delay, Gliosis, Neonatal death, Short nose |
OMIM:252160 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Depressed nasal bridge, An... |
OMIM:146510 |
| Peho Syndrome |
|
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth |
OMIM:260565 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Long... |
ORPHA:50810 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Restlessness, Inguinal hernia, Flexion contracture, Short nose |
ORPHA:544503 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Short stature, Micrognathia, Deep philtrum, Cleft palate, Mala... |
OMIM:610536 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Hypertelorism, Aqueductal stenosis, Proptosis, Short nose |
ORPHA:93258 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Short stature, Hypertelorism, Micrognathia, Open bite, ... |
ORPHA:1974 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Flexion contracture, Optic atrophy, Facial telangiectasia, Short nose |
OMIM:615851 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Hydrocephalus, Hypotelorism, Camptodacty... |
OMIM:617822 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short stature, Cleft upper lip, Hypertelorism, Cleft palate, Wide mouth, Short nose, B... |
ORPHA:1394 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Short stature, Anteverted nares, Hypertelorism,... |
OMIM:244450 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... |
ORPHA:289 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Deeply ... |
OMIM:618590 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Postnatal ... |
OMIM:612394 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Meningocele, Short nose |
ORPHA:2031 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Hypertelorism, Broad nasal ... |
OMIM:222448 |
| C Syndrome |
|
Anteverted nares, Short stature, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide m... |
OMIM:211750 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Decreased heart rate variability, Underdeveloped nasal ... |
OMIM:619005 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Short stature... |
OMIM:213980 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short stature, Hypertelorism, Tip-toe gait, Long philtrum, Short nose, ... |
OMIM:614185 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Short stature, Anteverted nares, Ataxia, Growth delay, Athetosis, Narrow ... |
ORPHA:2719 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Trisomy 20P |
|
Anteverted nares, Micrognathia, Hypertelorism, Abnormality of the dentition, Downturned corners o... |
ORPHA:261318 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Hypertelorism, Protruding tongue, Obesity, Growth delay, Downturned corners of ... |
ORPHA:96147 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, Overgrowth, High palate, Long philtru... |
OMIM:605309 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Proportionate short stature, Hypertelorism, Trismus, De... |
OMIM:227330 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Hypertelorism, Cleft palate, Proptosis, High palate, Mal... |
ORPHA:93259 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Anteverted nares, Small for gestational age, Broad nasal tip, Hypertelo... |
ORPHA:363611 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hypoplasia of ... |
OMIM:608156 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Micrognathia, Submucous cl... |
ORPHA:35107 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Micrognathia |
ORPHA:2547 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Short stature, Hypertelorism, Abnormality of ... |
ORPHA:457395 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Hypertelo... |
OMIM:601088 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Decreased resp... |
OMIM:616835 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Rhizomelia, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongu... |
ORPHA:50945 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short stature, Cleft soft palate, Hypertelorism, Micrognathia, Wide nasal bridg... |
ORPHA:2282 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Large for gestational age, Hypertelorism, Micrognathia,... |
OMIM:614080 |
| 1P21.3 Microdeletion Syndrome |
|
Aggressive behavior, Broad nasal tip, Abnormal eating behavior, Deeply set eye, Self-injurious be... |
ORPHA:293948 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Hypertelorism, Dental c... |
OMIM:617157 |
| Trisomy 18 |
|
Omphalocele, Short stature, Choanal atresia, Cyclopia, Hypertelorism, Congenital diaphragmatic he... |
ORPHA:3380 |
| Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossoptosis, Advanced eruption o... |
ORPHA:828 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hypertelorism, Underdeveloped nasal alae, Prominent nose, Micrognathia, Conical tooth, Supernumer... |
ORPHA:90024 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, Gait dist... |
ORPHA:65286 |
| Nicolaides-Baraitser Syndrome |
|
Short lingual frenulum, High, narrow palate, Gait ataxia, Widely spaced teeth, Anteverted nares, ... |
OMIM:601358 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Micrognathia, Shallow orbits |
ORPHA:1129 |
| Warburg Micro Syndrome 3 |
|
Micrognathia, Postnatal growth retardation, Inability to walk, Narrow palate, Downturned corners ... |
OMIM:614222 |
| Chops Syndrome |
|
Anteverted nares, Short stature, Hypertelorism, High, narrow palate, Obesity, Downturned corners ... |
OMIM:616368 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Rhizomelia, Short stature, Hypertelorism, Postnatal growth retardation, Aggressive... |
ORPHA:319182 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose |
ORPHA:1234 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Short stature, Dental malocclusion |
OMIM:616202 |
| Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Tria... |
OMIM:620369 |
| Cadds |
|
Intrauterine growth retardation, Short nose, Adrenal hypoplasia, Micrognathia |
ORPHA:369942 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Broad... |
OMIM:616268 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Anteverted nares, Short stature, Elbow flexion contracture, Dysphagia, Knee fle... |
OMIM:601559 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Glossoptosis, Choanal stenosis, Short philtrum, High palate, Shallow orbits,... |
OMIM:602535 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi... |
ORPHA:79500 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia |
OMIM:234050 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Depressed nasal bridge, Short stature,... |
OMIM:268310 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Pierre-Robin sequence, Cle... |
OMIM:217980 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Long nose, Inability to walk, Bulbous nos... |
ORPHA:508533 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Micrognathia, Abnormality of the dentition, Gait ataxia, Eruption failure, High ... |
ORPHA:476126 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Hypertelorism, Narrow mouth, Cleft palate, Grow... |
OMIM:601353 |
| Opsismodysplasia |
|
Rhizomelia, Depressed nasal bridge, Anteverted nares, Hypertelorism, Disproportionate short-limb ... |
OMIM:258480 |
| Coffin-Siris Syndrome |
|
Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Postnatal growth retard... |
ORPHA:1465 |
| Chand Syndrome |
|
Depressed nasal bridge, Ataxia, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Abnorma... |
ORPHA:1401 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Anteverted nares, Short stature, Hypertelorism, Thick lower lip... |
OMIM:303600 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Small for gestational age, Short stature, Triangular mouth, Hypogonadism, Short... |
OMIM:601675 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia of the max... |
ORPHA:79345 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Disproport... |
OMIM:200600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Short stature, Depressed nasal bridge, Small for gestational age, Broad... |
OMIM:309590 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathi... |
ORPHA:109 |
| Ogden Syndrome |
|
Ventricular tachycardia, Deeply set eye, Supraventricular tachycardia, Intrauterine growth retard... |
OMIM:300855 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Hypertelorism, Cleft lip, Cleft palate, Prominent na... |
ORPHA:2953 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum... |
ORPHA:314655 |
| Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality of the nose, Hyp... |
ORPHA:171929 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Hypertelorism, Cleft palate, Proptosis, High palate, Sho... |
ORPHA:93260 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Otopalatodigital Syndrome Type 2 |
|
Depressed nasal bridge, Micrognathia, Hypertelorism, Hypoplastic frontal sinuses, Pierre-Robin se... |
ORPHA:90652 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose, Failure to thrive |
OMIM:613735 |
| Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Hypertelorism, Gait disturbance, Adrenal insufficiency, Short nose |
OMIM:614863 |
| Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypertelorism, Micrognathia, High, narrow palate, Thick... |
OMIM:230740 |
| Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Dental malo... |
OMIM:616580 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Short stature, Narrow mouth, Wid... |
ORPHA:1449 |
| Peho Syndrome |
|
Anteverted nares, Hydrocephalus, Flexion contracture, Optic atrophy, Arthrogryposis multiplex con... |
ORPHA:2836 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypertelorism, Elevated urinary S-sulfocysteine level, Growth delay, Increased urinary taurine, T... |
OMIM:252150 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Short stature, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dent... |
ORPHA:353281 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b... |
OMIM:247200 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Alveolar ridge overgrowth, ... |
OMIM:602398 |
| Mietens Syndrome |
|
Wide nose, Severe short stature, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Short stature, Dental crowding, Hypertelorism, Postnatal growth retardation, Microgn... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Short stature, Dental crowding, Hypertelorism, Postnatal growth retardation, Microgn... |
ORPHA:353277 |
| Jacobsen Syndrome |
|
Death in infancy, Inguinal hernia, Short stature, Anteverted nares, Spina bifida, Hypertelorism, ... |
ORPHA:2308 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Joint hemorrhage, Epistaxis, Cerebral hemorrhage |
OMIM:277450 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Widel... |
ORPHA:268261 |
| Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Failure to thrive in infancy, Hypertelor... |
ORPHA:1340 |
| Frontofacionasal Dysplasia |
|
Hypertelorism, Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline d... |
OMIM:229400 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Neonatal deat... |
OMIM:612289 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... |
OMIM:301044 |
| Weiss-Kruszka Syndrome |
|
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow |
OMIM:618619 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
| Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Underdeveloped n... |
ORPHA:79328 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Depressed nasal bridge, Short stature, Congenital diaphragmatic he... |
ORPHA:1272 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Impulsivity, Growth delay, Attention deficit hyperactivity... |
OMIM:301030 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hypertelorism... |
ORPHA:3342 |
| Jacobsen Syndrome |
|
Anteverted nares, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Flexion contracture, Opti... |
OMIM:147791 |
| Lathosterolosis |
|
Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... |
ORPHA:46059 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Wide nasal bridge, Short colum... |
OMIM:613603 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ataxia, Unsteady gait, Submucous cleft hard palate, High palate, Long p... |
ORPHA:457279 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Coni... |
ORPHA:73223 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Deeply set eye, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... |
OMIM:619475 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Deeply set eye, Short... |
OMIM:613406 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Rhizomelia, Short lingual frenulum, Bilateral cleft lip, Hypertelorism,... |
OMIM:261540 |
| Zttk Syndrome |
|
Depressed nasal bridge, Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, S... |
OMIM:617140 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Hypertelorism, Broad nasal tip, Disproportionate short-trunk short stature, Cle... |
OMIM:272460 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Downturned corners of mouth, Deeply set eye, Abdominal obesity,... |
OMIM:619321 |
| Opsismodysplasia |
|
Short nose, Severe short stature, Depressed nasal bridge |
ORPHA:2746 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Postnatal growth retardation, Carious tee... |
ORPHA:536467 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Tented upper lip vermilion, Micrognathia, Congenital hypothyroidism, High palate, Long philtrum, ... |
OMIM:617527 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Promin... |
OMIM:619841 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Flexion contractur... |
ORPHA:505248 |
| Monosomy 9P |
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Depressed nasal bridge, Anteverted nares, Choanal atresia, Hypertelorism, Micrognathia, Narrow mo... |
ORPHA:261112 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Hypert... |
ORPHA:280633 |
| Monosomy 9Q22.3 |
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Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Narrow ... |
ORPHA:77301 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Abnormality of the temporomandibular joint, Depressed nasal bridge, Ant... |
ORPHA:536471 |
| Geleophysic Dysplasia 1 |
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Mitral stenosis, Anteverted nares, Short stature, Tricuspid stenosis, Camptodactyly of finger, Co... |
OMIM:231050 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Orofacial cleft, Proptosis, Thin vermil... |
ORPHA:1519 |
| Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Aganglionic megacolon, Growth delay, Proptosis, Short nose |
ORPHA:3339 |
| Bloom Syndrome |
|
Small for gestational age, Prominent nose, Postnatal growth retardation, Recurrent upper respirat... |
OMIM:210900 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Noonan Syndrome 3 |
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Hypoplastic nasal bridge, Short stature, Anteverted nares, Hypertelorism, High palate, Short nose |
OMIM:609942 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... |
ORPHA:93357 |
| C Syndrome |
|
Death in infancy, Depressed nasal bridge, Short stature, Anteverted nares, Failure to thrive in i... |
ORPHA:1308 |
| Trisomy 8P |
|
Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hydrocephal... |
ORPHA:264450 |
| Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
| Plaa-Associated Neurodevelopmental Disorder |
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Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Failure to thri... |
ORPHA:521426 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Short stature, Corneal scarring, Dysphagia, Intrauterine growth retardat... |
OMIM:618460 |
| Schinzel-Giedion Midface Retraction Syndrome |
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Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Hypertelorism, Postnat... |
OMIM:269150 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Death in infancy, Anteverted nares, Hypertelorism, Cleft upper lip, High, ... |
ORPHA:373 |
| Isolated Cleft Lip |
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Macrodontia, Small for gestational age, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Streak ovary, Failure to thrive in infancy, Broad nasal tip, Hypertelo... |
ORPHA:798 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Prominent nasal ti... |
ORPHA:522077 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Decreased response to growth hormone stimulation test... |
ORPHA:444077 |
| Lathosterolosis |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Gingival overgrowth, Growth delay, Thin vermil... |
OMIM:607330 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... |
ORPHA:2729 |
| Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Postnatal growth retardation, Cleft palate, High palate, Intrauterin... |
ORPHA:3338 |
| Peters Plus Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short stature, Rhizomelia, Po... |
ORPHA:709 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, Bi... |
ORPHA:672 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Aspartylglucosaminuria, Hypertelorism, Abnormality of the dentition, Cario... |
ORPHA:93 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Hypertelorism, Micrognathia, Depressed nasal ridge, Concave nasal ridge, ... |
OMIM:271665 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Optic nerve hypoplasia, Broad nasal tip, Aggressive behavior, Hair-pulling, Polyphag... |
OMIM:620330 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Anteverted nares, Short stature, Broad nasal tip, Long nose, Hypertelorism, Bulbous nose, Carious... |
OMIM:619522 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
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Microretrognathia, Short stature, Micrognathia, Prominent nose, Agenesis of mandibular central in... |
OMIM:268305 |
| Bartsocas-Papas Syndrome 1 |
|
Hypertelorism, Hypoplasia of the maxilla, Underdeveloped nasal alae, Micrognathia, Cleft upper li... |
OMIM:263650 |
| Omodysplasia 1 |
|
Rhizomelia, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Disproportionate short-limb ... |
OMIM:258315 |
| Degcags Syndrome |
|
Anteverted nares, Prominent nasal bridge, Small for gestational age, Prominent nose, Hyperteloris... |
OMIM:619488 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Short nose, Hypertelorism |
OMIM:200995 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Phocomelia, Schinzel Type |
|
Micrognathia, High, narrow palate, Disproportionate short stature, Cleft palate, Intrauterine gro... |
ORPHA:2879 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Scarring, Hypertelorism, Hiatus hernia, Mitral reg... |
OMIM:601776 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Pr... |
OMIM:619503 |
| Williams-Beuren Syndrome |
|
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal tip, Fail... |
OMIM:194050 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Aplasia of the nasal bone, Hypertelorism, Holoprosencephaly, Attention deficit hyper... |
OMIM:618820 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short statu... |
ORPHA:199 |
| Williams Syndrome |
|
Micrognathia, Dysmetria, Microdontia, Hypothyroidism, Hypogonadotropic hypogonadism, Short statur... |
ORPHA:904 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Hypertelorism, Aplasia of the parotid... |
OMIM:149730 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short stature, Maternal diabetes, Micrognathia, Underdeveloped nasal al... |
OMIM:134780 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
U-Shaped upper lip vermilion, Micrognathia, Hypertelorism, Wide nasal bridge, Thin vermilion bord... |
OMIM:609945 |
| Acromesomelic Dysplasia 1 |
|
Short nose, Disproportionate short stature |
OMIM:602875 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares... |
OMIM:312870 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Failure to thrive in infancy, Proportionate short stature, Hypoplasia of ... |
ORPHA:500150 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Bifid uvula, Depressed nasal bridge, Anteverted nares, ... |
OMIM:601803 |
| Penile Agenesis |
|
Short nose, Depressed nasal bridge, Maternal diabetes |
ORPHA:49 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat... |
OMIM:309800 |
