Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion |
OMIM:155050 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul... |
ORPHA:217340 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Aggressive behavior, Open mouth, Obesity, Self-inj... |
OMIM:613670 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Micrognathia, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation, Orbital ... |
ORPHA:1538 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Rhiny |
|
Short nose, Thin vermilion border, Anteverted nares |
OMIM:180360 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Prominent nose, Dental malocclusion, Abnormal repetitive mann... |
OMIM:615541 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Tr... |
ORPHA:3077 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Underdeveloped nasal alae, Micrognathia, Prominent nose, Open bi... |
ORPHA:2471 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Hyperactivity, Dental crowding, Small for gestational age, Oral-pharyngeal... |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia, Obesity |
OMIM:300577 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Micrognathia, Prominent nose, Carious teeth, Talon cusp, Dental malocclusion, Narr... |
OMIM:613684 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Macrocephaly |
OMIM:155350 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Ventricular septal defect, Facial cleft, Anterior encephalocele |
OMIM:601357 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Hydrocephalus, Macrocephaly, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth, Underdeveloped nasal alae |
OMIM:616108 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose, Long philtrum |
OMIM:125700 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Depressed nasal bridge, Anteverted nares, Exaggerated cu... |
OMIM:617752 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... |
ORPHA:1200 |
Masa Syndrome |
|
Short stature, Hyperlordosis, Microcephaly, Kyphosis, Hydrocephalus, Macrocephaly, Ventriculomegaly |
OMIM:303350 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Anteverted nares, Dental malocclusion |
OMIM:618292 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... |
ORPHA:1906 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615938 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... |
ORPHA:1248 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... |
ORPHA:1832 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Restlessness, Irritability, Short nose, Failure to thrive |
OMIM:618379 |
Adenylosuccinate Lyase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum |
ORPHA:46 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Choreoathetosis, Self-injurious behavior, Dystonia, Prominent nasal tip... |
OMIM:618218 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:615937 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s... |
OMIM:253250 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... |
ORPHA:1008 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Alopecia of scalp, Toenail dysplasia, ... |
ORPHA:1532 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age, Attention deficit hyperactivity disorder |
OMIM:245570 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Sacral dimple, Short stature, Craniosynostosis, Micrognathia, Short neck, Hydroc... |
ORPHA:1516 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis |
OMIM:123155 |
14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte... |
ORPHA:261120 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature,... |
ORPHA:40 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia |
OMIM:608931 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v... |
ORPHA:2429 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Exaggerated cupid's bow, Narrow nasal ridg... |
OMIM:619293 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Severe temper tantrums, T... |
OMIM:619854 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, S... |
OMIM:300143 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Open bite, Abnormality of dental... |
ORPHA:1327 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Wide cranial sutures, Short stature, Postnatal ... |
OMIM:616294 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Unilambdoid synostosis, Brachycephaly,... |
OMIM:618577 |
Chung-Jansen Syndrome |
|
Anteverted nares, Impulsivity, Aggressive behavior, Micrognathia, Obesity, Thin vermilion border,... |
OMIM:617991 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Hypothermia |
OMIM:618557 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Hyperactivity, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Underdeveloped nasal alae, Dental malocclusion, Malar flattening, Broad c... |
ORPHA:436245 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Long nose, Underdeveloped nasal alae, H... |
OMIM:257850 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Wide nasal bridge, Attention ... |
OMIM:619149 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Generalized amyotrophy, Hypothermia |
OMIM:610006 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Cle... |
OMIM:619736 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, ... |
OMIM:300558 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Cachexia, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve... |
ORPHA:1695 |
Achondroplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Wide anteri... |
ORPHA:15 |
Anophthalmia Plus Syndrome |
|
Facial cleft, Spina bifida |
ORPHA:1104 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Microcephaly, Hydrocephalus, Scoliosis, Macrocephaly |
OMIM:300884 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Low ha... |
OMIM:613680 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Dental maloc... |
ORPHA:61 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Macrocephaly |
ORPHA:99966 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i... |
OMIM:619719 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Downturned corners of mouth, Stere... |
OMIM:617865 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ... |
ORPHA:2980 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Hsd10 Disease |
|
Short attention span, Ataxia, Postnatal growth retardation, Tremor, Choreoathetosis, Gait disturb... |
ORPHA:391417 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Dental malocclu... |
OMIM:617883 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Ventriculomegaly, Delayed cranial suture closure, Craniosynostosis, Hydrocephalu... |
OMIM:175700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Microcephaly, Kyphosis, Hip dislocation, Scoliosis, Hirsutism |
OMIM:300434 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... |
OMIM:614744 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Paresthesia |
OMIM:615361 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum |
ORPHA:438178 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Diastema, Long philtrum, Short nose |
OMIM:300581 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Short stature, Short neck, Micrognat... |
ORPHA:3098 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Riboflavin Deficiency |
|
Lethargy, Hypothermia |
OMIM:615026 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Craniosynostosis 6 |
|
Turricephaly, Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microc... |
OMIM:616602 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Small for gestational age, D... |
OMIM:612921 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hydrocephalus, Hip dislocation, Macrocephaly |
ORPHA:250994 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Synophrys, Hydrocephalus, Lobar holopros... |
OMIM:609637 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Disproportionate shor... |
OMIM:271530 |
Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Growth delay, Plagiocephaly, Scoliosis, Midface retrusion, Thick eyebrow |
OMIM:617768 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hyperactivity, Small for gestational age, Aggressive behavior, Thick lower lip... |
OMIM:123450 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Obe... |
OMIM:157980 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, M... |
OMIM:613330 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation, Macrocephaly |
OMIM:607091 |
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 |
Pierpont Syndrome |
|
Smooth philtrum, Wide nose, Broad nasal tip, Broad philtrum, Prominent median palatal raphe, Thin... |
OMIM:602342 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Short stature, Micrognathia, Hydrocephalus, Coronal... |
OMIM:112240 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Self-mutilation, Abnorma... |
ORPHA:251028 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... |
ORPHA:99776 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Short stature, Absent facial hair, Short neck, Hydrocephalus, Low posterior h... |
ORPHA:2183 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia... |
OMIM:616331 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Hypothermia... |
ORPHA:90674 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Hydrocephalus, Brachycephaly, Melanocytic nevus, Midface retrusion |
OMIM:612247 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Hirsutism, Congenital bilateral hip dislocation |
ORPHA:85288 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:611225 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Ventriculomegaly, Short stature, Highly arched eyebrow, Micrognathia, Postnatal gr... |
OMIM:300590 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, At... |
OMIM:620292 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, ... |
OMIM:619356 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Dep... |
OMIM:300912 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short no... |
ORPHA:329178 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hydrocephalus, Brachycephaly,... |
ORPHA:53271 |
Fried Syndrome |
|
Hydrocephalus, Thickened calvaria, Scoliosis |
ORPHA:85335 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... |
ORPHA:49827 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide nasal bridge, Oligodontia,... |
OMIM:618727 |
Band Heterotopia |
|
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Ventriculomegaly |
OMIM:600348 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Temple Syndrome |
|
Few cafe-au-lait spots, Frontal bossing, Relative macrocephaly, Short stature, Postnatal growth r... |
ORPHA:254516 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Short attention span, Diabetes mellitus, Broad nasal tip, Overweight, Repe... |
ORPHA:391372 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Facial cleft |
ORPHA:1791 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Facial cleft, Webbed neck, Intrauterine growth retardation, Spina bifida occulta |
ORPHA:1786 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly... |
OMIM:618736 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft |
OMIM:603671 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Short nose, High palate, Micrognathia |
ORPHA:2598 |
Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontan... |
OMIM:259420 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Cachexia, Abnormal soft pa... |
ORPHA:884 |
Late-Onset Familial Hypoaldosteronism |
|
Fever, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circ... |
ORPHA:556037 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Short ... |
OMIM:601224 |
Harrod Syndrome |
|
Long nose, Dental malocclusion, High palate, Narrow mouth, Failure to thrive |
ORPHA:2115 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Anteverted nares, Short stature, Ataxia, Decreased response to growth hormone stim... |
OMIM:601853 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... |
ORPHA:85321 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral ... |
OMIM:604317 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Hypothyroidism, Abnormal repetitive mannerisms, Depressed na... |
ORPHA:819 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Abnormal repetitive mannerisms, Short philtrum |
ORPHA:85277 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Decreased response to growth ho... |
OMIM:614963 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Micrognathia, Kyphosis, Wide anterior fontanel, Macrocephaly, Umb... |
OMIM:618272 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Hypothermia |
OMIM:614654 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Carpal osteolysis, Hirsutism |
OMIM:277950 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Aggressive behavior, Micrognat... |
OMIM:617061 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture, Small nail, Microcephaly |
OMIM:619470 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Short stat... |
ORPHA:2050 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Microcep... |
OMIM:614886 |
Acromicric Dysplasia |
|
Anteverted nares, Bulbous nose, Thick lower lip vermilion, Narrow mouth, Short nose, Long philtrum |
ORPHA:969 |
Perlman Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, Abnormal uppe... |
ORPHA:2849 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus,... |
ORPHA:2655 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephal... |
ORPHA:207 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Pheo... |
ORPHA:1332 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Thick hair, Abnormal hair pattern, Micrognathia, Brachycephaly, Long eyelashes, Sp... |
ORPHA:1514 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Failure to thrive, Hypothermia |
OMIM:245400 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Long nose, Carious teeth, Thin lower lip vermilion, Velopharyngeal ... |
ORPHA:363444 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Delayed closure of the anter... |
OMIM:130060 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of t... |
ORPHA:2786 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Depressed nasal bridge, Anteverted nares... |
OMIM:614613 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Downturned corners of mouth, Thin vermilion bord... |
ORPHA:1895 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Short nose, Narrow mouth |
ORPHA:217385 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Depressed nasal bridge, Dental malocclusion, High palate, Hypodontia, ... |
OMIM:612350 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, T... |
OMIM:249620 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Open mouth |
OMIM:617507 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Anorexia, Paresthesia, Lethargy |
ORPHA:33475 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Brachycephaly, Abnormal... |
OMIM:109120 |
Phelan-Mcdermid Syndrome |
|
Palpebral edema, Aggressive behavior, Micrognathia, Bulbous nose, Tongue thrusting, Dental malocc... |
OMIM:606232 |
Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Short stature, Micrognathia, Microcephaly, Synophrys, H... |
ORPHA:238769 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... |
ORPHA:3079 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... |
OMIM:615716 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... |
ORPHA:763 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Palpebral edema, Bulbo... |
ORPHA:261144 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Severe short stature, Micrognathia, Carious teeth, Kyphosis, Microcephaly... |
ORPHA:2617 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Kyphosis, Hydrocephalus, Platysp... |
ORPHA:93274 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Short philtrum, Short nose, Abnormal repetitive mannerisms, Open mouth |
ORPHA:228384 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Short stature, Depressed nasal brid... |
OMIM:613038 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Microcephaly, Kyphosis, Hip dislocation, Scoliosis |
OMIM:616756 |
Momo Syndrome |
|
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... |
ORPHA:2563 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk, Gait ataxia, Growth dela... |
OMIM:103050 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Thin vermilion border, Narrow mouth |
ORPHA:2370 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Kyphosis, Hydrocephalus, Shoulder dislocation, Scoliosis, Umbilical hernia |
ORPHA:2181 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Highly arched eyebrow, Micrognathia, Postnatal growth r... |
OMIM:614541 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Carious teeth, Hydrocephalus, Hemiverte... |
ORPHA:377 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Microcephaly, Scoliosis |
OMIM:617404 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia, Limb hypertonia |
OMIM:614498 |
Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Mild short stature, Facial cleft |
ORPHA:952 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormal fingernail morphology, Short... |
ORPHA:2701 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Muenke Syndrome |
|
Malar flattening, High palate, Attention deficit hyperactivity disorder, Dental malocclusion |
OMIM:602849 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Phalangeal dislocation, ... |
OMIM:264180 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft, Abnormal heart morphology |
OMIM:239800 |
Seckel Syndrome 1 |
|
Hyperactivity, Dental crowding, Selective tooth agenesis, Prominent nose, Micrognathia, Dental ma... |
OMIM:210600 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Thickened calvaria, Scheuerman... |
OMIM:301900 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, High palate, Lon... |
OMIM:613544 |
Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Abnormal sacroiliac joint morphology, Wide anterior fontanel, ... |
ORPHA:1860 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... |
OMIM:618493 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Depressed nasal bridge, Aggr... |
OMIM:618430 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Aggressive behavior, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of ... |
OMIM:620250 |
Zimmermann-Laband Syndrome |
|
Wide nose, Micrognathia, Bulbous nose, Supernumerary tooth, Gingival fibromatosis, Cleft palate, ... |
ORPHA:3473 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Grow... |
OMIM:610600 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis, Hydrocephalus, Pallor |
ORPHA:163596 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Short Syndrome |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Underdeveloped nasal alae, De... |
OMIM:269880 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Broad eyebrow |
OMIM:618302 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Ataxia, Aggressive behavior, Micrognathia, Irritability, S... |
OMIM:619833 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Hydrocephalus |
OMIM:129850 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Restlessness, Hyperactivity, Depressed nasal bridge, Short stature, Ataxia... |
ORPHA:369891 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Short nose, Abnormal palate morphology, Micrognathia |
ORPHA:1495 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... |
OMIM:613604 |
Congenital Hydrocephalus |
|
Frontal bossing, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculomegaly |
ORPHA:2185 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Abnormal dental morpholo... |
ORPHA:1716 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Short nose, Anteverted nares |
ORPHA:531 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Ataxia, Broad nasal tip, Micrognathia, Abnormal... |
ORPHA:530983 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Synophrys, Scoliosis, Hypertrichosis |
ORPHA:85317 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Short attention span, Short stature, Ataxia, Prominent nose, Aggressive be... |
OMIM:156200 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short stature, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Brachycephaly, Umbili... |
OMIM:615834 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Failure to thrive, High, narrow palate, Bulbous nose, Wide mouth, Thi... |
ORPHA:485405 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Severe short stature, Alopecia, Abnormal dental enamel morphology, Microcephaly, Ky... |
ORPHA:1005 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Sparse scalp hair, Short stature, Sagittal craniosynostosis, Micrognathia,... |
ORPHA:459061 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterin... |
ORPHA:272 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Long eyelashes, Scoliosis, Intrau... |
ORPHA:48431 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Frontal bossing, Dilated fourth ventricle, Hydrocephalus, Macrocephaly, Dolich... |
OMIM:220220 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Prominent nasal ... |
OMIM:234100 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... |
OMIM:618658 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypothermia |
OMIM:616501 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Obesity, Short columella, Thin vermilion ... |
ORPHA:171839 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Hydrocephalus, Macrocephaly, Umbilical hernia |
ORPHA:380 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Micrognathia, Dysphagia |
OMIM:617258 |
Bresek Syndrome |
|
Alopecia, Microcephaly, Hydrocephalus, Hemivertebrae, Growth delay, Plagiocephaly, Scoliosis, Int... |
ORPHA:85284 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Broad nasal tip, Lower lip pit, Dental malocclusion, Cleft palate, Dep... |
OMIM:300867 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Microcephaly, Abnormal hair whorl, Hydrocephalus, Plagiocephaly, Scolios... |
OMIM:616362 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Frontal bossing, Short stature, Carious teeth, Mandibular osteomyelitis, Hydro... |
ORPHA:53 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Hypothermia, Flexion contracture, Impaired proprioception, Impaired distal vibration sens... |
ORPHA:99027 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Hypothermia, Short neck, Precocious puberty, Chorea, Sel... |
ORPHA:58 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphosis, Hip dislocation, Lateral ventr... |
OMIM:618291 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Larsen-Like Syndrome |
|
Malar flattening, Absent nasal bridge, Cleft palate, Dental malocclusion |
OMIM:608545 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Broad nasal tip, Micrognathia, Obesity, Wide mouth... |
ORPHA:293948 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplas... |
OMIM:230650 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge |
OMIM:615560 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... |
OMIM:615583 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Enlarged joints, Thoracolumbar scoliosis, Kyphosis, Knee f... |
OMIM:313420 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature,... |
OMIM:608747 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose, Polyphagia |
OMIM:618774 |
Constricting Bands, Congenital |
|
Encephalocele, Ectopia cordis, Facial cleft |
OMIM:217100 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Small for gestational age, Hypothermia, Increased circulating fr... |
ORPHA:26793 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Broad-based gait, Anteverted nares, Diabetes mellitus, Proportionate short stature, Sm... |
ORPHA:391408 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Dystonia, Short nose |
OMIM:617183 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Short nose, Retrognathia, Dentinogenesis imper... |
ORPHA:166272 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Kyphoscoliosis, Macrocephaly |
OMIM:300886 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephal... |
ORPHA:93262 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Macroglossi... |
OMIM:242860 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Pallor |
ORPHA:517 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Anteverted nares, Dental crowding, Micrognathia, Pierre-Robin sequence, Cleft ... |
OMIM:617201 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Calvarial skull defect, Spina bifida |
ORPHA:945 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... |
ORPHA:210110 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Hypothermia |
OMIM:309400 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Abnormal ... |
ORPHA:2180 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Absent pubic hair, Male hypogonadism, Decreased circulating... |
ORPHA:90793 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Decreased calvarial ossification, Disproportionate short-limb short stat... |
OMIM:259440 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly |
ORPHA:324416 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Brac... |
OMIM:218350 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Bifid uvula, Anteverted nares, Sup... |
OMIM:211380 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... |
ORPHA:3099 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Encephalocele, Abnormal fingernail morphology, Short stature, Micrognathia... |
ORPHA:1908 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Short nose, Smooth philtrum |
OMIM:615419 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Short stature, Secondary microcephaly, Macrocephaly |
OMIM:618174 |
Au-Kline Syndrome |
|
Failure to thrive, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nas... |
OMIM:616580 |
Cardiofaciocutaneous Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ... |
OMIM:115150 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short attention span, Hyperactivity, Short stature, Small for gestatio... |
ORPHA:73272 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Biemond Syndrome Ii |
|
Hydrocephalus, Short stature |
OMIM:210350 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Micrognathia, Retrognathia, Dysphagia, Short nose, Thick nasal alae |
ORPHA:163961 |
Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge |
ORPHA:221054 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Aggressive behavior, Micrognathia, Abnormality of the dentition, Tremor, Eruptio... |
ORPHA:476126 |
Oculomaxillofacial Dysostosis |
|
Short stature, Facial cleft |
ORPHA:1794 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Joint... |
ORPHA:1883 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... |
OMIM:619797 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Frontal bossing, Short stature, Scoliosis |
ORPHA:276630 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Micrognathia, Hydrocephalus, Brachycephaly, Long eyelashes, Horizontal eyebrow, Ma... |
OMIM:609757 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature |
OMIM:618453 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology |
ORPHA:1131 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
Robinow Syndrome |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Micrognathia, Persist... |
ORPHA:97360 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Micrognathia, Opisthotonus, Irritability, Short nose, Failure to thrive |
OMIM:615851 |
Intellectual Disability-Strabismus Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Short statur... |
ORPHA:363528 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivi... |
ORPHA:642 |
Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Severe short stature, Thoracolumbar kyphoscoliosis, Hip subluxation, Wide ante... |
OMIM:618853 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... |
ORPHA:2388 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos... |
OMIM:616420 |
Trigonocephaly 1 |
|
High, narrow palate, Short nose, Wide nasal bridge, Long philtrum |
OMIM:190440 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Short stature, Microcephaly, Micrognathia, Hydrocephalus, Hip dislocatio... |
OMIM:241800 |
Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anon... |
OMIM:616455 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft |
ORPHA:1647 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age, Stereotypical hand wringing |
ORPHA:289266 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior ... |
OMIM:616482 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Dental malocclusion, Wide nasa... |
OMIM:616894 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dystonia, Bulbous nose, Hig... |
OMIM:614105 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Intermittent hypothermia, Tongue thrusting, Choreoathetosis, Athetosis, Lethargy, Te... |
OMIM:608643 |
Sclerosteosis 1 |
|
Mandibular prognathia, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, Facial pal... |
OMIM:269500 |
Temple Syndrome |
|
Relative macrocephaly, Frontal bossing, Short stature, Micrognathia, Hydrocephalus, Scoliosis, In... |
OMIM:616222 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Bulbous nose, Flared nostrils, Dental malocclusion, Wide nasal bridge, ... |
OMIM:616737 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge,... |
OMIM:611174 |
Weismann-Netter Syndrome |
|
Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis... |
OMIM:112350 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Platyspondyly, Macrocephaly, Intrauter... |
OMIM:300863 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Short stature, Progressive microcephaly |
OMIM:620007 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Joint contracture of ... |
ORPHA:352490 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Underdeveloped nas... |
OMIM:209885 |
Hall-Riggs Syndrome |
|
Microcephaly, Kyphosis, Hypoplasia of the primary teeth, Irregular vertebral endplates, Platyspon... |
OMIM:234250 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Short nose... |
OMIM:618828 |
Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose |
ORPHA:93328 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Ataxia, Reduced intraab... |
ORPHA:363400 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Macrocephaly, Dolichocephaly |
OMIM:618512 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Tetrasomy 5P |
|
Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Short neck, Hydrocephalus, De... |
ORPHA:3309 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Hypothermia, Aggressive behavior, Unsteady gait, Flexion contracture, Ra... |
ORPHA:17 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal denta... |
ORPHA:816 |
Non-Distal Duplication 13Q |
|
Micrognathia, Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip... |
ORPHA:1702 |
Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Micrognathia, Cognitive impairment, Intrauterine growth retardation, Short nose, M... |
ORPHA:2145 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Wormian bones, Short stature, Short neck, Micrognathia, Kyphosis, Hydrocephalus... |
OMIM:130720 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Kyphosis, Brachycephaly, Plagiocephaly, Dolichocephaly, Ventriculomegaly |
OMIM:615433 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Short neck, Micr... |
ORPHA:2311 |
Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Micrognathia, Dental malocclusion, Wide nasal bridge, Alveolar ridge overgrowth... |
ORPHA:444072 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Micrognathia, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Brachycep... |
OMIM:615761 |
Evans Syndrome |
|
Epistaxis, Syncope, Pallor, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Achondrogenesis |
|
Long philtrum, Short nose, Anteverted nares, Micrognathia |
ORPHA:932 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Thin upper lip vermilion, Short nose, High palate, Micrognathia |
OMIM:615042 |
Codas Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Anteverted ... |
ORPHA:1458 |
Tetrasomy 18P |
|
Narrow mouth, Short nose, Thin vermilion border, Long philtrum |
ORPHA:3307 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Ataxia, Anorexia, Hypothermia, Weight loss, Lethargy |
ORPHA:20 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Inability to walk, Dysphagia, Short nose, Abno... |
OMIM:617802 |
Diastrophic Dysplasia |
|
Joint dislocation, Camptodactyly of finger, Micrognathia, Elbow dislocation, Kyphosis, Abnormal f... |
ORPHA:628 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microcephaly, Hydrocephalus, Intrauterine growth retardation... |
ORPHA:858 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Collectionism, Hyperactivity, Short lingual frenulum, Aggressive behavi... |
ORPHA:96121 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Kyphosis, Hydrocephalus, Knee flexion contracture, Macroceph... |
OMIM:603387 |
Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hydrocephalus, Hemivertebrae, Brachycephaly, Low posterior hairline, Prominent occi... |
OMIM:220210 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Intrauterine growth retardation, P... |
OMIM:610333 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Hyperthyroidism, Diastasis recti, Decreased response to growth hormone s... |
ORPHA:488632 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Ab... |
ORPHA:894 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Obesity, Inappropriate laughte... |
ORPHA:411515 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Failure to thrive, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Carious teeth, Wide... |
OMIM:613026 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Micrognathia, Dental malocclusion, Wide nasal bridge, Localized... |
ORPHA:73223 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Short stature, Abnormal dental enamel morphology, Hyperlordo... |
ORPHA:1798 |
Trisomy 17P |
|
Prominent metopic ridge, Short stature, Short neck, Micrognathia, Microcephaly, Hydrocephalus, Lo... |
ORPHA:261290 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration, Progressive macrocephaly |
OMIM:203450 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hydrocephalus, Scoliosis, Macrocephaly, Intrauterine growth retardati... |
OMIM:616355 |
Noonan Syndrome 4 |
|
Depressed nasal bridge, Large for gestational age, Dental malocclusion, Wide mouth, Thick vermili... |
OMIM:610733 |
3C Syndrome |
|
Frontal bossing, Ventriculomegaly, Short stature, Short neck, Postnatal growth retardation, Kypho... |
ORPHA:7 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Ataxia, Hypothermia, Chorea, Ragged-red muscle fibers, Gait ataxia, Dysphagia, Failure to ... |
ORPHA:255210 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior |
ORPHA:382 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Craniosynostosis, Hyd... |
ORPHA:2409 |
Hypomelanosis Of Ito |
|
Alopecia, Microcephaly, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis, ... |
OMIM:300337 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Elbow ... |
ORPHA:2916 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Micrognathia, Unsteady gait, Impaired social interactions, Short nose |
OMIM:256600 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Severe short stature, Micrognathia, Short neck, Hydrocephalus, Advanced ossificati... |
OMIM:224400 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Failure to thrive, Anteverted nares, Cleft upper lip, Wide nasal bridge... |
OMIM:243310 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdevelop... |
OMIM:615485 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Long philtrum, Short nose, S... |
ORPHA:401935 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Ataxia, Inability to walk, Dysmetria, Dystonia, Short nose |
OMIM:618087 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Marshall-Smith Syndrome |
|
Failure to thrive, Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Sho... |
ORPHA:561 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Wormian bones, Kyphoscoliosis, Highly arched eyebrow, Microcephaly, Brachy... |
OMIM:618644 |
Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Short stature, Delay... |
OMIM:305450 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Ventriculomegaly, Microcephaly |
ORPHA:319199 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Ck Syndrome |
|
Micrognathia, Hyperlordosis, Kyphosis, Microcephaly, Scoliosis, Retrognathia |
OMIM:300831 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Thick eyebrow,... |
OMIM:253220 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Clark-Baraitser syndrome |
|
Frontal bossing, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis, Macrocephaly, Maxillary later... |
OMIM:300602 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... |
ORPHA:950 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Tremor, Inability to walk, Dysmetria, Gait ataxia, Chor... |
OMIM:617988 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Short neck, Kyphosis, Microcephaly, Scoliosis, Retrognathia |
OMIM:611890 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Short neck, Pallor, Atrial septal defect, Intrauterine ... |
OMIM:609053 |
20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Palpebral edema, Periorbita... |
ORPHA:363659 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Synophrys, Broad na... |
OMIM:300280 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Aggressive behavior, Bulbous nose, Absent cupid's bow, A... |
ORPHA:284169 |
Timothy Syndrome |
|
Hypothyroidism, Hypothermia |
OMIM:601005 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
4Q21 Microdeletion Syndrome |
|
Frontal bossing, Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrau... |
ORPHA:238750 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Dislocated radial head, Ventriculomegaly, Microcephaly |
OMIM:304100 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Restlessness, Irritability, Short nose, Failure to thrive |
ORPHA:544503 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Aarskog-Scott Syndrome |
|
Decreased serum testosterone concentration, Short stature, Anteverted nares, Elevated circulating... |
OMIM:305400 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... |
OMIM:615546 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Microcephaly, Hydrocephalus, Low anterior hairline, Lateral ventricle dil... |
OMIM:614219 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Short nose |
ORPHA:1914 |
Cdkl5-Deficiency Disorder |
|
Growth delay, Kyphosis, Synophrys, Scoliosis |
ORPHA:505652 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Alexander Disease Type I |
|
Hydrocephalus, Progressive macrocephaly, Scoliosis |
ORPHA:363717 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth... |
OMIM:225790 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Long philtrum,... |
OMIM:619179 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Kyphosis, Short stature |
OMIM:618392 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Cloverleaf skull, Short neck, Hydrocephalus, Macrocephaly, Platyspondyly, Dispro... |
OMIM:187600 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Inability to walk, Wide nasal bridge, Gait ataxia, Attenti... |
OMIM:619383 |
Achondrogenesis Type 1B |
|
Long philtrum, Short nose, Anteverted nares, Micrognathia |
ORPHA:93298 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Hypoplastic toenails, Hydrocephalus, Skull asymmetry, Secondary microcephaly, Umbilic... |
OMIM:612938 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Hyperactivity, Anteverted nares, Short stature, Impaired pain sensation, Long ... |
ORPHA:261211 |
Even-Plus Syndrome |
|
Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Short nose |
OMIM:616854 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Tremor, Wide nasal bridge, Limb tremor, High palate, Short nose |
OMIM:218000 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Hy... |
ORPHA:2884 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Macrocephaly |
OMIM:615191 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Agitation, Prominent nasal bridge, Short nose |
OMIM:613870 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Failure t... |
OMIM:616430 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentrat... |
OMIM:616034 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal... |
OMIM:227330 |
Faciocardiomelic Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Large for gestational age, Dental maloccl... |
OMIM:612731 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic ... |
ORPHA:2839 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodonti... |
ORPHA:2959 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Abnormal dental enamel morphology, Prominent nose,... |
ORPHA:439822 |
Smith-Mccort Dysplasia 1 |
|
Short stature, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxi... |
OMIM:607326 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose |
OMIM:614078 |
Martin-Probst Syndrome |
|
Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, Wide mouth, Mala... |
OMIM:300519 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Gait ataxia, Delayed puberty, Short nose, Spastic gait |
ORPHA:496790 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short... |
OMIM:253000 |
Griscelli Syndrome |
|
Encephalocele, Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gr... |
ORPHA:381 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Hydrocephalus, Humeroradial synostosis, Brachycephaly, L... |
OMIM:207410 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Short stature, Spina bifida, Kyphosis, Synophrys, Abnormal form of the... |
ORPHA:3219 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Facial cleft |
ORPHA:861 |
Sandhoff Disease |
|
Kyphosis, Macrocephaly |
ORPHA:796 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Aggressive behavior, Abnormality of the dentition, Orofa... |
ORPHA:65286 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Dental crowding,... |
OMIM:145420 |
Fibrochondrogenesis 2 |
|
Malar flattening, Short nose, Anteverted nares, Micrognathia |
OMIM:614524 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Short nose, Depressed nasal bridge, Attention deficit hyperactivity disorder |
ORPHA:210548 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Severe short stature, Short statu... |
OMIM:309900 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f... |
OMIM:259450 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Hypothermia |
OMIM:618775 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Frontal bossing, Short stature, Slow-growing hair, Micrognathia, Short nec... |
ORPHA:3082 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Retrognathia, Micrognathia, Short neck |
OMIM:618393 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Rhabdomyolysis, Hypothermia |
ORPHA:159 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose |
OMIM:618437 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus... |
OMIM:618975 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Decreased body weight, Anteverted nares, Thick lower lip vermil... |
OMIM:303600 |
Achondrogenesis Type 1A |
|
Long philtrum, Short nose, Anteverted nares, Micrognathia |
ORPHA:93299 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Genu recurvatum, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wide... |
OMIM:182212 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Congenital hip dislocation, Microcephaly, Hydrocephalus, Scoliosis, Wormian bone... |
OMIM:612940 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Wide mouth, Long philtrum, Short nose, Failure to thrive |
OMIM:608776 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat... |
OMIM:603457 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxation, Multiple joint... |
ORPHA:93360 |
Diabetic Embryopathy |
|
Frontal bossing, Micrognathia, Microcephaly, Hydrocephalus, Abnormal sacrum morphology, Spinal dy... |
ORPHA:1926 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Short nose, Depressed nasal bridge |
OMIM:616910 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Sacral dimple, Flat occiput, Brachycephaly, Exencephaly, Abnormal toenail morpholo... |
ORPHA:2211 |
Tenorio Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Delayed cranial suture closure, Hydrocephalus, Scoliosis... |
OMIM:616260 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Microcepha... |
OMIM:620157 |
Monosomy 22Q13.3 |
|
Hyperactivity, Dental crowding, Palpebral edema, Hair-pulling, Bulbous nose, Dental malocclusion,... |
ORPHA:48652 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi... |
OMIM:619005 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Short stature, Delayed puberty |
ORPHA:141333 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:560 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Enlarged joints, Kyphoscoliosis, Hypoplasia of the ... |
OMIM:156530 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Absent eyebrow, Thin fingernail, Abnormal dental enamel morphology, Tarsal synos... |
ORPHA:85199 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Short stature, Hyperlordosis, Micrognathia, Hy... |
OMIM:616007 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Platyspondyly, Intrauter... |
ORPHA:163966 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Distal Deletion 10Q |
|
Short stature, Prominent nasal bridge, Ataxia, Prominent nose, Aggressive behavior, Postnatal gro... |
ORPHA:96148 |
Al-Raqad Syndrome |
|
Thin upper lip vermilion, Short nose, Narrow mouth |
OMIM:616459 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Fetal Trimethadione Syndrome |
|
High palate, Short nose, Depressed nasal bridge, Micrognathia |
ORPHA:1913 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly, Kyphosis, Microcephaly, Micrognathia |
ORPHA:77300 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,... |
OMIM:618529 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Short nose |
OMIM:610015 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Everted lower lip ver... |
ORPHA:1699 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
Cousin Syndrome |
|
Frontal bossing, Rhizomelia, Dislocation of the femoral head, Short neck, Micrognathia, Hydroceph... |
OMIM:260660 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Akinesia, Progressive neurologic deterioration, Microgn... |
OMIM:608013 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Short stature, Rhizomelia, Decrea... |
ORPHA:319182 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... |
ORPHA:1946 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Short nose, Failur... |
OMIM:614261 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Short stature, Short neck, Microcephaly, Kyphosis, Hip disloc... |
OMIM:301041 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Torticollis, Failure to thrive, Dental crowding,... |
OMIM:618371 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Anteverted nares, Palpebral edema, Ataxia, Aggressive behavior, Bulbous nose, Unsteady... |
ORPHA:314647 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Secondary microcephaly |
ORPHA:397951 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Impaire... |
ORPHA:293987 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, D... |
OMIM:166220 |
Prader-Willi Syndrome Due To Translocation |
|
Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Compulsive behaviors, Abn... |
ORPHA:177907 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Micrognathia |
ORPHA:2547 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Secondary microcephaly, Microcephaly |
OMIM:615599 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia |
OMIM:614120 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... |
OMIM:101600 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... |
OMIM:613686 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Short statur... |
ORPHA:1340 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Turricephaly, Prominent metopic ridge, Micrognathia, Synophrys, Noncommunicating hydrocephalus, L... |
OMIM:619320 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Facial cleft |
ORPHA:268249 |
Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip |
OMIM:613885 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Increased laxity of ankles, Hydrocephalus, Scoliosis |
ORPHA:99947 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion |
OMIM:310400 |
Trisomy 9P |
|
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Microcephaly, Brachycephaly, Impacted ... |
ORPHA:236 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn... |
ORPHA:353281 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Micrognathia, Kyphosis, Short neck, Hip dislocation, Elbow flexion contracture, ... |
ORPHA:75840 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft |
OMIM:613451 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tremor, Cari... |
ORPHA:96263 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Short stature, Abnormal fingernail m... |
ORPHA:235 |
Shashi-Pena Syndrome |
|
Highly arched eyebrow, Kyphosis, Synophrys, Hypertrichosis, Mild fetal ventriculomegaly, Long eye... |
OMIM:617190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man... |
OMIM:614008 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Microgna... |
ORPHA:2789 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Long nose, Carious teeth, Downturned corners of mouth, Thin ver... |
OMIM:617602 |
3M Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Short stature, Abnormal d... |
ORPHA:2616 |
Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Turricephaly, Highly arched eyebrow, Short neck, Spina bifida, Microcephaly, Synop... |
OMIM:613776 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology,... |
ORPHA:1295 |
Marden-Walker Syndrome |
|
Short neck, Postnatal growth retardation, Kyphosis, Micrognathia, Wide anterior fontanel, Microce... |
OMIM:248700 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose |
OMIM:615539 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Underdeveloped nasal alae, Abnormality of the dentition, Oligodontia, ... |
ORPHA:2315 |
Achondroplasia |
|
Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hydrocephalus, Macrocephaly, Lumbar kyphosis i... |
OMIM:100800 |
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 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Scoliosis |
OMIM:615290 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Large for gestational age, Open mouth, Wide mou... |
OMIM:616638 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Failure to thrive, Palpebral edema, Long philtrum |
ORPHA:50810 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-midline cleft lip, Cleft palate, Mi... |
ORPHA:1915 |
Menkes Disease |
|
Hypopigmentation of hair, Inguinal hernia, Hypothermia, Chorea, Aplasia/Hypoplasia of the abdomin... |
ORPHA:565 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Hi... |
OMIM:180849 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
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 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Deep philtrum, Sh... |
OMIM:613320 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Growth delay, Cognitive impairme... |
ORPHA:2083 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Carious teeth, High palate, Narrow mouth, Malar flattening, Short nose, Failure... |
OMIM:219200 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:83473 |
Peho Syndrome |
|
Short nose, Tented upper lip vermilion, Retrognathia, Open mouth |
OMIM:260565 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Broad eyebrow, Highly arched eyebrow, Microcephaly, Kyphosis, Low anterior hairline, Brachycephal... |
OMIM:619244 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mouth... |
ORPHA:163649 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Cle... |
OMIM:239300 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Prominent nasal bridge, Cachexia, Micrognathia, Trismus, Supernumerary tooth, Dental... |
ORPHA:800 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Microretrognathia, Severe short stature, Depressed nasal bridge, Obesity, Growth d... |
OMIM:251450 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose, Failure to th... |
OMIM:170100 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Short stature, Microcephaly, Kyphosis, Hydrocephalus, Brachycephaly, Plagi... |
ORPHA:500055 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Broad nasal tip, Underdeveloped nasal ... |
ORPHA:352665 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Pursed lips, Dental crowding, Small for gestational age, Underdeveloped na... |
OMIM:193700 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscol... |
OMIM:253200 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Prominent nasal bridge, Prominent nose, Dental malocclusion, Bifid uvula, High palate,... |
OMIM:601552 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Tetralogy of Fallot, Facial cleft |
ORPHA:306542 |
Cdags Syndrome |
|
Frontal bossing, Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Parietal foramin... |
OMIM:603116 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Macrocephaly |
OMIM:300676 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Autosomal Recessive Omodysplasia |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Short nose |
ORPHA:93329 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E... |
ORPHA:261494 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Ventriculomegaly, Congenital hip dislocation, Delayed eruption of prima... |
OMIM:609029 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... |
OMIM:619475 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis, Dolichocephaly |
ORPHA:1548 |
Down Syndrome |
|
Depressed nasal bridge, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilio... |
ORPHA:870 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Sacral dimple, Microretrognathia, Turricephaly, Microceph... |
OMIM:613603 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Pallor |
ORPHA:3226 |
Toluene Embryopathy |
|
Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Smooth philtrum |
ORPHA:1920 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Microcephaly, Fused cervical ve... |
ORPHA:2522 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Craniosynostosis, Kyphosis, Hydrocephalus, Scaphocephaly, Melanocy... |
OMIM:616914 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Pallor, Gingival bleeding |
ORPHA:98870 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder d... |
OMIM:245600 |
Central Precocious Puberty In Male |
|
Hydrocephalus, Abnormality of secondary sexual hair |
ORPHA:649929 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retarda... |
OMIM:611134 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Progressive macrocephaly, Ventriculomegaly |
OMIM:602501 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Obesity, Weight loss, Gro... |
ORPHA:251071 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Sacral dimple, Short stature, Craniosynostosis, Micrognat... |
ORPHA:93932 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, Ankle flexion contracture, Elbow flexion c... |
ORPHA:536516 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Impaired propr... |
ORPHA:96180 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Facial cleft, Intrauterine growth retardation, Dry skin, Patent foramen ovale |
OMIM:263650 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Hypoplastic... |
ORPHA:2437 |
Cadds |
|
Short nose, Dystonia, Micrognathia |
ORPHA:369942 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion |
OMIM:608940 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose, Failure to thrive |
OMIM:613735 |
Congenital Enterovirus Infection |
|
Fever, Hypothermia |
ORPHA:292 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ... |
OMIM:616202 |
Leishmaniasis |
|
Abnormal bleeding, Pallor, Skin ulcer |
ORPHA:507 |
Trisomy 20P |
|
Frontal bossing, Thick hair, Highly arched eyebrow, Short neck, Micrognathia, Kyphosis, Spina bif... |
ORPHA:261318 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Vertebral wedging, Biconcave v... |
OMIM:610968 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Short neck, Synophrys, Hydrocephalus, Growth delay, Colpocephaly, Retrognathia, Ven... |
OMIM:620156 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Pettigrew Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Microcephaly, Aqueductal stenosis, Hydrocephalus, Scolio... |
OMIM:304340 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cubitus valgus, Kyphosis |
ORPHA:1875 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... |
ORPHA:79113 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Small for gestational age, Prominent nasal bridge, Delayed e... |
OMIM:133540 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Bulbous nose, Flared nostrils, Dental maloc... |
ORPHA:487796 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Short stature, Inability to walk, Bulbous nose, Wide nasal bridge, Gait distur... |
OMIM:618571 |
Baralle-Macken Syndrome |
|
Kyphosis, Cafe-au-lait spot, Hirsutism, Microcephaly |
OMIM:619255 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Long philtrum |
OMIM:300887 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Multiple joint dislocation, Large joint dislocations, Scoliosis, Acetabular dysplas... |
ORPHA:536467 |
Microphthalmia With Limb Anomalies |
|
Failure to thrive, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft... |
OMIM:206920 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Tented upper lip vermilion, Dystonia, Micrognathia, High palate, Lo... |
ORPHA:521426 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Ventriculomegaly, Abnormal dental enamel morphology, Supernumerary nipple, Hydro... |
ORPHA:1812 |
Triploidy |
|
Micrognathia, Short neck, Hydrocephalus, Meningocele, Holoprosencephaly, Macrocephaly, Intrauteri... |
ORPHA:3376 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Dental malocclusion, High pala... |
OMIM:102500 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Ataxia, Facial palsy, Hypothermia |
ORPHA:31826 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Clef... |
ORPHA:261236 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose |
ORPHA:1234 |
Infantile Sialic Acid Storage Disease |
|
Hydrocephalus, Fair hair, Hypopigmentation of the skin |
OMIM:269920 |
Wieacker-Wolff Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Microcephaly, Hip dislocation, ... |
OMIM:314580 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Ventriculomegaly, Sparse eyelashes, Craniosynostosis, Proboscis, ... |
OMIM:605627 |
Ruvalcaba Syndrome |
|
Short stature, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Limited elbow extension |
OMIM:180870 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Severe short stature, Micrognathia, Anisospondyly, Short neck, Hydrocephalus, Micr... |
ORPHA:1865 |
Localized Scleroderma |
|
Abnormality of the dentition, Abnormality of the nose, Dental malocclusion, Abnormal facial skele... |
ORPHA:90289 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Short neck, Hydrocephalus, Brachycephaly, Pigmentary retinopathy, Frontal upswee... |
OMIM:612582 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Dravet Syndrome |
|
Limited neck range of motion, Pallor |
ORPHA:33069 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Supernumerary nipple, Kyphosis, Hyd... |
OMIM:619951 |
Hurler Syndrome |
|
Frontal bossing, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Cranial... |
OMIM:607014 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Microcephaly, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardation |
ORPHA:2075 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Genu recurvatum, Hydrocephalus, Macrocephaly,... |
ORPHA:2969 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, K... |
ORPHA:582 |
Neuroleptic Malignant Syndrome |
|
Fever, Hypothermia, Chorea, Rhabdomyolysis, Agitation, Dysphagia |
ORPHA:94093 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:99688 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Hyperactivity, Abnormal eating behavior, Tong... |
ORPHA:98794 |
Fraser Syndrome 1 |
|
Encephalocele, Hydrocephalus, Myelomeningocele, Facial cleft, Abnormal heart morphology |
OMIM:219000 |
Congenital Myopathy 22A, Classic |
|
Frontal bossing, Thoracic scoliosis, Hip contracture, Micrognathia, Spinal rigidity, Kyphosis, Sy... |
OMIM:620351 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... |
OMIM:619040 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypothermia |
OMIM:618329 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... |
ORPHA:94068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Ventriculomegaly |
OMIM:606612 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Dental... |
OMIM:101200 |
Ruvalcaba Syndrome |
|
Microcephaly, Kyphosis, Abnormality of the elbow, Hypopigmented skin patches, Scoliosis, Delayed ... |
ORPHA:3121 |
Cockayne Syndrome A |
|
Mandibular prognathia, Slender nose, Delayed eruption of primary teeth, Prominent nose, Carious t... |
OMIM:216400 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Sacral dimple, Ventriculomegaly, Congenital hip dislocation... |
ORPHA:96170 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Severe pos... |
ORPHA:3078 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Frontal bossing, Craniosynostosis, Carious teeth, Hydroc... |
OMIM:259700 |
15Q24 Microdeletion Syndrome |
|
Short stature, Microcephaly, Postnatal growth retardation, Kyphosis, Myelomeningocele, Scoliosis,... |
ORPHA:94065 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Anteverted nares, Small for gestational age, Micrognathia, Wide nasal bridge, Cleft palate, Unila... |
OMIM:616897 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Underdeveloped nasal alae, Cleft... |
OMIM:164200 |
Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, S... |
ORPHA:955 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Hyperlordosis, Myelo... |
ORPHA:63259 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Turricephaly, Contracture of the proximal interphalange... |
ORPHA:314585 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Long philtrum, Short nose |
ORPHA:1988 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Genu valgum, Spin... |
ORPHA:2983 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Short stature, Anteverted nares, Broad nasal tip, Postnatal growth ret... |
ORPHA:357074 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Short neck |
ORPHA:251046 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:457279 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Intrauterine growth retardation |
OMIM:618237 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Abnormal acetabulum morpholog... |
ORPHA:93314 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hypothermia |
OMIM:251880 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Micrognathia, High palate, Dysphagia, S... |
OMIM:617527 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Large for gestational age... |
OMIM:615398 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Microcephaly, Kyphosis, Hip dislocation, Scoliosis |
ORPHA:464282 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt... |
OMIM:249400 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Hypoplasia o... |
ORPHA:87 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Velopharyngeal insufficiency, Submucous cleft hard pa... |
OMIM:614701 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Short neck, Microcephaly, Kyphosis, Synophrys, Brachycephaly, Scoliosis, Intrau... |
ORPHA:254346 |
Methylcobalamin Deficiency Type Cble |
|
Microcephaly, Postnatal growth retardation, Hydrocephalus, Scoliosis, Intrauterine growth retarda... |
ORPHA:2169 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, High palate, Long philtrum, Short nose |
OMIM:605309 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Micrognathia, Patellar hypoplasia, Neonatal short-limb sho... |
OMIM:114290 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy, Failure to thrive, Ataxia, Hypothermia |
ORPHA:79282 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen... |
ORPHA:309271 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hematological neoplasm, Hepatocellular carcinoma,... |
ORPHA:101330 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Sparse axillary hair, Elevated circulating luteinizing hormone le... |
ORPHA:90796 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Synophrys, Thoracic kyphosis, Sparse hair, Microretrognathia, P... |
OMIM:602535 |
Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:252605 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Micrognathia |
ORPHA:1129 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Melanocytic nevus, Hypoplasia of... |
ORPHA:1555 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Micrognathia, Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Decreased calvarial ossifica... |
OMIM:617866 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Hydrocephalus, Intrauterine growth retardation, Dandy-Walker m... |
OMIM:614846 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Apparent Mineralocorticoid Excess |
|
Short stature, Abnormality of circulating cortisol level, Intrauterine growth retardation, Polydi... |
ORPHA:320 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Short stature, Decreased response to growth hormone stimulation test... |
OMIM:213980 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Kypho... |
ORPHA:137834 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia... |
OMIM:223800 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Congestive heart failure, Pallor |
ORPHA:75564 |
Peho Syndrome |
|
Anteverted nares, Palpebral edema, Open mouth, Gingival overgrowth, Abnormal upper lip morphology... |
ORPHA:2836 |
3Mc Syndrome 3 |
|
Growth delay, Short stature, Facial cleft |
OMIM:248340 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Increased circulating ACTH level... |
ORPHA:43 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Wormian bones, Pterygium |
ORPHA:2771 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Micrognathia, Hydrocephalus, Abnormal form of... |
ORPHA:1834 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Relative macrocephaly, Short stature, Kyphosis, Delayed puberty, Ventricul... |
OMIM:300354 |
Holoprosencephaly 1 |
|
Short stature, Alobar holoprosencephaly, Facial cleft, Ethmocephaly, Single ventricle |
OMIM:236100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Microcephaly |
OMIM:613155 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Broad nasal tip... |
OMIM:249420 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Frontal bossing, Prominent metopic ridge, Congenital hip dislocation, Micr... |
OMIM:619512 |
Distal Duplication 5Q |
|
Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Short n... |
ORPHA:96097 |
Joubert Syndrome |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormal form of the vertebral bodies, Bipar... |
ORPHA:475 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Cranial asymmetry, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-... |
OMIM:609128 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Dolichocephaly, Scoliosis, Short neck |
ORPHA:178148 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Cleft palate, Hypoplasia of the zygomatic bone, Narrow mouth, ... |
ORPHA:83 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera... |
OMIM:619859 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Nail-biting, Broad-based gait, Pain insensitivity, Malar flattening, Broad... |
OMIM:620330 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Flat occiput, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Mac... |
ORPHA:300570 |
Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine growth retardati... |
ORPHA:314588 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Obesity, Depression, Growth delay, Irritability, Short nose, Failure to thrive |
ORPHA:96147 |
3Mc Syndrome 1 |
|
Sacral dimple, Highly arched eyebrow, Supernumerary nipple, Postnatal growth retardation, Wide an... |
OMIM:257920 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Grayi... |
OMIM:253010 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... |
OMIM:259710 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... |
ORPHA:1358 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Osteoarthritis, Scoliosis |
ORPHA:2114 |
C Syndrome |
|
Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Wide mouth, High pala... |
OMIM:211750 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Ataxia, Hypogonadotropic hypogonadism, Postnatal gr... |
OMIM:616113 |
Hurler Syndrome |
|
Frontal bossing, Short stature, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality o... |
ORPHA:93473 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Short stature, Craniosynostosis, Micrognathia |
ORPHA:1064 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Carious teeth, Recurrent sinusit... |
OMIM:604173 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Malar flattening, Micrognathia, Absent frontal sinuses,... |
OMIM:154780 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353277 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Thick vermilion border |
ORPHA:1185 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... |
ORPHA:1790 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, At... |
ORPHA:357001 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Short stature, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis, Macroc... |
ORPHA:364028 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Wide anterior fontanel, Platyspondyly, Decreased calvarial ossification, Disproportiona... |
OMIM:610915 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short nose |
ORPHA:1912 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Hypoplasia of teeth, ... |
OMIM:608612 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate, Long philt... |
OMIM:300749 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Short stature, Kyphosis, Scoliosis, Retrognathia, Thick e... |
OMIM:615547 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Hypoplasia of the odontoid p... |
OMIM:177170 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Short stature, Hydrocephalus, Low anterior hairline, Spinal canal stenosis, Ab... |
ORPHA:579 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Relative macrocephaly, Frontal bossing, Joint dislocation, Rhizomelia, Ovoid vertebral bodies, Th... |
OMIM:618019 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Camptodactyly of finger, Hypoplastic toenails, Hydrocephalus,... |
ORPHA:261344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate... |
OMIM:615803 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Tremor, Large for gestational age, Cleft ... |
OMIM:614080 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxi... |
OMIM:616393 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Microcephaly, Hydrocepha... |
ORPHA:370959 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Hypothermia |
ORPHA:230 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Frontal bossing, Hypermelanotic macule, Hydrocephalus, Macrocephaly, Ventriculomegaly |
ORPHA:60040 |
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 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Macrocephaly |
OMIM:307000 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis |
ORPHA:2318 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Depressed nasal bridge, Choanal atresia, Micrognathia, Protru... |
OMIM:259775 |
Mend Syndrome |
|
Sacral dimple, Short stature, Micrognathia, Kyphosis, Wide anterior fontanel, Hydrocephalus, Spot... |
ORPHA:401973 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Platyspondyly, Long eyelashe... |
OMIM:618476 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann... |
OMIM:108300 |
2P15P16.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Sparse eyeb... |
ORPHA:261349 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Short stature, Microcephaly, Hydrocephalus, Coarse hair, Mac... |
ORPHA:585 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Micrognathia, Postnatal growth retardation, Short neck, Hydrocep... |
OMIM:257300 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Pr... |
OMIM:301040 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Orthostatic Hypotension 1 |
|
Weakness of facial musculature, Intermittent hypothermia, Reduced circulating prolactin concentra... |
OMIM:223360 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal mandib... |
ORPHA:2215 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis |
ORPHA:220497 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral colu... |
ORPHA:77301 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flatten... |
ORPHA:3258 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft palate, Malar flattening, S... |
OMIM:610536 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Inability to walk, Short nose, Micrognathia |
OMIM:614222 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis, Abnormal ve... |
ORPHA:220493 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Prominent metopic ridge, Short stature, Delayed cranial suture closure, Cranio... |
ORPHA:1272 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Persistence ... |
OMIM:300166 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Short stature, Limited wrist extension, Kyphosis, Scoliosis,... |
OMIM:108145 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo... |
OMIM:618590 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Hydrocephalus, Scoliosis, Microcephaly |
OMIM:617244 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Mandibular prognathia, Median cleft lip, Anteverted nares, Abnormal dental e... |
ORPHA:2710 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Thick hair, Hiatus hernia, Hypothermia, Atypical scarr... |
ORPHA:198 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Micrognathia, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Frontal bossing, Kyphoscoliosis, Spina bifida, Hydroceph... |
OMIM:109400 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Synophrys, Hydrocephalus, Abnormal form of the vertebra... |
ORPHA:3042 |
Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:1642 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Camptodactyly of finger, Abnormal hair pattern, Short neck, Microcephaly, Kyphosis... |
ORPHA:85293 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Impulsivity, Shyness, Hypogonadotropic hypogonadism, Growt... |
OMIM:301030 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Anteverted nares, Depressed nasal bridge, Small for gestational age, Underdeve... |
OMIM:616835 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Short stature, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
OMIM:614114 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Microcephaly, Hydrocephalus, Growth delay, Intrauterine growth retardation, Enamel hypoplasia, Re... |
OMIM:614576 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Short stature, Short neck, Congestive heart failur... |
OMIM:105650 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, Wide nasal bridge, High palate, Short nose, Failure to thrive |
OMIM:618005 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal t... |
ORPHA:1465 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Failure to thrive, Prominent nasal bridge, ... |
OMIM:601812 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... |
ORPHA:309263 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac... |
OMIM:311300 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Pigmentary retinopathy, Scoliosis |
OMIM:618234 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph... |
OMIM:276950 |
Oliver Syndrome |
|
Mandibular prognathia, High palate, Short philtrum, Dental malocclusion |
ORPHA:2920 |
Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Rhizomelia, Micrognathia, Microcephaly, Hydrocephalus, Ma... |
OMIM:602398 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Micrognathia,... |
OMIM:613457 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abn... |
ORPHA:96169 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Contracture of the distal interph... |
OMIM:607015 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Frontal bossing, Sparse eyelashes, Hydrocephalus, Low posterior ha... |
OMIM:612863 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Coarse hair... |
OMIM:612289 |
Weaver Syndrome |
|
Mandibular prognathia, Deep-set nails, Flat occiput, Thin nail, Kyphosis, Limited knee extension,... |
OMIM:277590 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Colpocephaly, Macrocep... |
OMIM:615219 |
Donnai-Barrow Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2143 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Short stature, Growth delay, ... |
ORPHA:261330 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Short stature, Scoliosis |
OMIM:618124 |
Basal Cell Nevus Syndrome 2 |
|
Frontal bossing, Hydrocephalus, Macrocephaly |
OMIM:620343 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Microgna... |
ORPHA:2462 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Thick hair, Micrognathia, Hypoplasia of the m... |
ORPHA:193 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hemiverteb... |
ORPHA:3412 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Short na... |
OMIM:278250 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Progressive gait ataxia, Low frustration to... |
ORPHA:646 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231226 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Hydroce... |
ORPHA:2658 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
15Q14 Microdeletion Syndrome |
|
Short stature, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis |
ORPHA:261190 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Hypertrichosis |
OMIM:614898 |
2Q31.1 Microdeletion Syndrome |
|
Prominent metopic ridge, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Kyphos... |
ORPHA:251014 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... |
OMIM:608156 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na... |
OMIM:618454 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Short attention span, Anteverted nares, Short stature, Aggressive behavior, ... |
OMIM:601358 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Dental crowd... |
OMIM:614188 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Short stature, Ventriculomegaly, Genu valgum |
OMIM:615630 |
Optic Pathway Glioma |
|
Growth delay, Hydrocephalus |
ORPHA:2086 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High palate, Narrow... |
OMIM:265000 |
Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Ataxia, Hyperact... |
ORPHA:209905 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Short nose, Anteverted nares, Underdeveloped nasal alae |
ORPHA:2031 |
Desmosterolosis |
|
Failure to thrive, Depressed nasal bridge, Micrognathia, Abnormality of the nose, Submucous cleft... |
ORPHA:35107 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of retinal pigmentation, Short stature, Hyperlordosis |
ORPHA:3085 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Weiss-Kruszka Syndrome |
|
Broad philtrum, Short nose, Anteverted nares, Exaggerated cupid's bow |
OMIM:618619 |
Pseudoaminopterin Syndrome |
|
Frontal bossing, Sparse scalp hair, Short stature, Sagittal craniosynostosis, Micrognathia, Highl... |
ORPHA:221120 |
Carpenter Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Carious teeth, High, narrow palate, Dental malocclusion... |
OMIM:614976 |
Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Carious teeth, Dental ma... |
ORPHA:191 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Progressive microcephaly, Scoliosis, Microcephaly |
OMIM:615249 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Sacral dimple, Flat occiput, Ventriculomegaly, Short neck, Postnatal growth re... |
OMIM:300966 |
Megalocornea-Intellectual Disability Syndrome |
|
Frontal bossing, Short stature, Micrognathia, Microcephaly, Kyphosis, Scoliosis, Macrocephaly, Ge... |
ORPHA:2479 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide nasal b... |
OMIM:247200 |
Alkuraya-Kucinskas Syndrome |
|
Micrognathia, Hydrocephalus, Plagiocephaly, Macrocephaly, Dandy-Walker malformation, Ventriculome... |
OMIM:617822 |
Deeah Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
OMIM:619004 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Microcepha... |
OMIM:610828 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Dental malocclusion |
ORPHA:1855 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Highly arched eyebrow, Micrognathia, Abnormal hair pattern, Kyphosis, Colpocepha... |
ORPHA:261250 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Diastema, Cario... |
OMIM:244450 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Prominent... |
ORPHA:522077 |
Becker Nevus Syndrome |
|
Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Microcephaly |
ORPHA:398189 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Inc... |
ORPHA:268810 |
Pelger-Huet Anomaly |
|
Frontal bossing, Kyphosis, Umbilical hernia, Macrocephaly, Mild short stature |
OMIM:169400 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Dend Syndrome |
|
Downturned corners of mouth, Short nose, Anteverted nares, Long philtrum |
ORPHA:79134 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Sacral dimple, Lumbar hyperlordosis, Cloverleaf skull, Craniosynostosis, Microgn... |
ORPHA:508533 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, A... |
OMIM:218600 |
Acrofacial Dysostosis 1, Nager Type |
|
Short stature, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Trismus, Hydrocephalus,... |
OMIM:154400 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Intrauterine growth retardation, Scoliosis, Hyperlordosis |
OMIM:255200 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Short... |
ORPHA:268261 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Synophrys, Microce... |
OMIM:618443 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Abnormality of retinal pig... |
ORPHA:192 |
Holoprosencephaly 14 |
|
Frontal bossing, Ventriculomegaly, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Micr... |
OMIM:619895 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Scoliosis |
OMIM:618484 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Hip subluxation, Kyphosis, Synophrys, Bilateral camptodactyly, Growth delay, Scoli... |
OMIM:619557 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Brachycephaly, Abno... |
ORPHA:666 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners of mouth, H... |
ORPHA:46059 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micrognathia, Synophrys, Hydrocephalus, Hirsutism, Progressive microcephaly, Hypopigmentation of ... |
OMIM:614969 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Severe short stature, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scolio... |
OMIM:230500 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
Flynn-Aird Syndrome |
|
Carious teeth, Kyphosis, Alopecia, Scoliosis |
ORPHA:2047 |
Monosomy 18Q |
|
Mandibular prognathia, Short stature, Kyphoscoliosis, Microcephaly, Hydrocephalus, Low anterior h... |
ORPHA:1600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Failure to thrive, Micrognathia, Protruding tongue, Thick vermilion border, Narrow mou... |
OMIM:608779 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Dysphagia, ... |
ORPHA:447997 |
Williams Syndrome |
|
Micrognathia, Periorbital edema, Tremor, Compulsive behaviors, Microdontia, Abnormal dental morph... |
ORPHA:904 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Small for gestational a... |
OMIM:268400 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Short nose |
ORPHA:2510 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Bradycardia, Hypotension, Pallor, Petechiae, Purpura |
ORPHA:90051 |
Sialidosis Type 2 |
|
Kyphosis, Umbilical hernia, Short stature |
ORPHA:87876 |
Lopes-Maciel-Rodan Syndrome |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:617435 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Highly arched eyebrow, Micrognathia, Microcephaly, Hydrocephalus, Postnata... |
OMIM:620155 |
Marinesco-Sjogren Syndrome |
|
Short stature, Microcephaly, Kyphosis, Scoliosis, Cubitus valgus |
OMIM:248800 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nose |
OMIM:614749 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow dislocation, Myelo... |
ORPHA:90652 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
Mohr Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Scoliosis, Agenesis of cen... |
OMIM:252100 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan... |
OMIM:166250 |
Oligomeganephronia |
|
Branchial cyst, Hypertension, Secundum atrial septal defect |
ORPHA:2260 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... |
ORPHA:2062 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Hyperpigmentation of the skin, Kyph... |
ORPHA:573278 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Micrognathia, Cleft pa... |
ORPHA:1225 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Hydrocephalus, Macrocephaly, Me... |
OMIM:608091 |
Trisomy 10P |
|
Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality of the nose, Mic... |
ORPHA:171929 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Flat occiput, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Small nail, Limited... |
OMIM:123790 |
Mccune-Albright Syndrome |
|
Nasal congestion, Dental malocclusion, Abnormal facial skeleton morphology |
ORPHA:562 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Wide mouth, Short nose |
OMIM:614207 |
Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Micrognathia, Microcephaly, Kyphosis, Myelomeningocele, Meningocele,... |
ORPHA:1393 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Hydrocephalus, Growth delay, Pall... |
ORPHA:667 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis, Micrognathia |
ORPHA:1545 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231214 |
Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Thick eyebrow, Microcephaly, Hydrocephalus, Long eyelashes, Dandy-Walker malform... |
OMIM:617281 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Microcephaly, Spinal rigidity |
OMIM:615084 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia of the max... |
ORPHA:79345 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:614409 |
Marburg Hemorrhagic Fever |
|
Fever, Anorexia, Aggressive behavior, Dysesthesia, Hypothermia, Lethargy |
ORPHA:99826 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hemivertebrae, Growth delay, Holoprosencephaly, Abnormal vertebral morphology |
ORPHA:77298 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wide mouth, Hig... |
ORPHA:1974 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocation, Genu valgum,... |
ORPHA:171436 |
Adams-Oliver Syndrome |
|
Encephalocele, Alopecia, Hydrocephalus, Aplastic/hypoplastic toenail, Absent fingernail, Sparse h... |
ORPHA:974 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Hypothermia, Abnormality of the endocrine system, Inability to walk, Precocious... |
ORPHA:438213 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Frontal bossing, Communicating hydrocephalus, Hyperlordosis, Sparse eyebro... |
OMIM:617011 |
Atypical Rett Syndrome |
|
Growth delay, Kyphosis, Secondary microcephaly, Scoliosis |
ORPHA:3095 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis |
ORPHA:3409 |
Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Congenital hip dislocation, Short stature, Kyphoscoliosis, Short neck, Postnatal... |
OMIM:304120 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski... |
ORPHA:626 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Iris hypopigmentation, A... |
OMIM:610443 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Spinal canal stenosis, Depigmentation/hyperpigmentation... |
ORPHA:1724 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Flat acet... |
OMIM:271700 |
Jacobsen Syndrome |
|
Flat occiput, Micrognathia, Short neck, Abnormal eyelash morphology, Hydrocephalus, Microcephaly,... |
OMIM:147791 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ... |
ORPHA:3385 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:261337 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Fraser Syndrome |
|
Cleft ala nasi, Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Cleft upper l... |
ORPHA:2052 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft palate, Down... |
OMIM:217980 |
Rhombencephalosynapsis |
|
Microretrognathia, Short nose, Anteverted nares, Narrow mouth |
ORPHA:59315 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Joubert Syndrome 14 |
|
Encephalocele, Highly arched eyebrow, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malf... |
OMIM:614424 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Mi... |
ORPHA:1507 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Short stature, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydroce... |
OMIM:162200 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Athetosis, Narrow mouth, Microdontia, Short nose, Abnor... |
ORPHA:2719 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Malar flattening, Short nose |
ORPHA:93259 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... |
OMIM:600145 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Hydrocephalus, White hair, Ocular albinism, Generalized hypopigmentation, Iris hyp... |
ORPHA:2720 |
White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, U... |
OMIM:619426 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Pfeiffer Syndrome Type 1 |
|
High palate, Short nose, Depressed nasal bridge |
ORPHA:93258 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Congenital hip dislocation, Cubitus valgus, Hydrocephalus, Hemivertebrae, Scoliosi... |
OMIM:104350 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Delayed puberty, Anterior plagioceph... |
OMIM:619718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Ventriculomegaly, Hydrocephalus, Macrocephaly, Retrognathia, Dand... |
OMIM:614643 |
Cleidocranial Dysplasia 1 |
|
Frontal bossing, Persistent open anterior fontanelle, Short stature, Delayed eruption of primary ... |
OMIM:119600 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Flat occiput, Sparse facial hair, Mi... |
ORPHA:2232 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Hydrolethalus |
|
Hydrocephalus, Retrognathia, Anencephaly, Micrognathia |
ORPHA:2189 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Kyphosis, Scolio... |
ORPHA:90322 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Short neck, Sparse eyebrow, Kyphosis, Low posterior hairline, Lateral ... |
OMIM:619745 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Short nose |
OMIM:608022 |
Orofaciodigital Syndrome Type 4 |
|
Wide nose, Median cleft lip, Failure to thrive, Abnormal oral mucosa morphology, Choanal atresia,... |
ORPHA:2753 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no... |
OMIM:229400 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Highly arched eyebrow, Hydrocephalus, Biparietal narrowing, Scoliosis, M... |
ORPHA:1454 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Frontal bossing, Dry hair, Alopecia, Short stature, Microcephaly, Carious teet... |
OMIM:311200 |
Autosomal Dominant Robinow Syndrome |
|
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Micrognathia, O... |
ORPHA:3107 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Alg1-Cdg |
|
Kyphosis, Progressive microcephaly, Scoliosis |
ORPHA:79327 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Micrognathia, Macrocephaly, Umbilical hernia |
ORPHA:2268 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl... |
ORPHA:828 |
Srd5A3-Cdg |
|
Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Spotty hyperpigmentation, Hypertr... |
ORPHA:324737 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Sialidosis Type 1 |
|
Frontal bossing, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:812 |
Williams-Beuren Syndrome |
|
Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Broad nasal tip, Thick lo... |
OMIM:194050 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Micrognathia, Kyphosis, Hip disloc... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar flattening, Sho... |
OMIM:616723 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Micrognathia, Kyphosis, Low anterior hairline, Brachycephaly, Scoliosis |
ORPHA:404440 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Sacral dimple, Fair hair, Alopecia, Craniosynostosis, Hyperlordosis, Postnatal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Sacral dimple, Fair hair, Alopecia, Craniosynostosis, Hyperlordosis, Postnatal... |
ORPHA:363958 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti... |
OMIM:601088 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Frontal bossing, Short stature, Camptodactyly of finger, Hyperlordosis, Ky... |
ORPHA:354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hyperactivity, Depressed nasal bridge, Small for gestational age, Broad... |
OMIM:309590 |
Fanconi Anemia, Complementation Group B |
|
Short neck, Hydrocephalus, Growth delay, Intrauterine growth retardation, Abnormal vertebral morp... |
OMIM:300514 |
Sarcoidosis |
|
Fever, Alopecia, Hyperthyroidism, Diabetes insipidus, Facial palsy, Scarring, Hypothermia, Weight... |
ORPHA:797 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Malar flattening, Sh... |
OMIM:612394 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge |
ORPHA:90154 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Short stature, Micrognathia, Kyphosis, Hydrocephalus, Spotty hy... |
OMIM:300960 |
Aregenerative Anemia |
|
Abnormal bleeding, Bruising susceptibility, Pallor |
ORPHA:101096 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Growth delay, Anemic pallor, Hematochezia |
ORPHA:329971 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum |
ORPHA:1394 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Microcephaly, Spinal rigidity |
ORPHA:352447 |
Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Craniosynostosis, Microcephaly, Kyphosis, Contracture of the proximal interphalang... |
OMIM:618050 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Anteverted nares, Cleft palate, Narrow mouth, Malar flattening, Short nos... |
OMIM:228520 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue,... |
OMIM:601559 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
Congenital Myopathy 22B, Severe Fetal |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Triangular mouth, H... |
OMIM:620369 |
Multiple Sulfatase Deficiency |
|
Short stature, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF protein concentration, ... |
OMIM:272200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Micrognathia, Microcephaly, Hydrocephalus, Cranial hyperostosis, Growth delay, Hip... |
OMIM:259720 |
Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Anteverted nares, Small for gestational age, Broad nasal tip, Abnormali... |
ORPHA:363611 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Microcephaly, Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:613150 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tremor... |
ORPHA:280633 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Ventriculomegaly, Short stature, Thin nail, Limited elbow movement, M... |
OMIM:218040 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Pallor |
ORPHA:35858 |
Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antevert... |
OMIM:613458 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... |
OMIM:268310 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
Donnai-Barrow Syndrome |
|
Malar flattening, Short nose, Depressed nasal bridge, Broad nasal tip |
OMIM:222448 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad nasal tip, Wi... |
OMIM:617157 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Patent ductus arteriosus, Hydrocephalus, Abnormal heart morphology,... |
OMIM:227646 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Protruding tongue, Micrognathia, Long phil... |
ORPHA:50945 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Depressed nasal bridge, Short stature, Small for gestational age, Short nose, Convex nasa... |
OMIM:300661 |
Marden-Walker Syndrome |
|
Severe short stature, Camptodactyly of finger, Micrognathia, Microcephaly, Kyphosis, Hydrocephalu... |
ORPHA:2461 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Growth delay, Irritability, Short nose, Opisthotonus |
OMIM:252160 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Short neck, Postnatal growth retardation, Microcephal... |
ORPHA:168577 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Dolichocephaly, Carious teeth, Ky... |
OMIM:176270 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Ogden Syndrome |
|
Microretrognathia, Torticollis, Depressed nasal bridge, Short stature, Maternal diabetes, Underde... |
OMIM:300855 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Kyphosis, Scoliosis, Sparse hair, Retrognathia, Ventriculomegaly |
OMIM:616449 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Abnormal hair whorl, Hydrocephalus, Plagiocephaly, Scoliosis, Ventriculo... |
ORPHA:457284 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones |
OMIM:617821 |
Schneckenbecken Dysplasia |
|
Malar flattening, Short nose, Cleft palate |
OMIM:269250 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Low anterior hairline, Intrauterine growth retardation |
OMIM:619909 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Short stature, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Ventricular... |
ORPHA:508488 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Ventriculomegaly, Thick hair, Synophrys, Hydrocephalus, Abnormal form ... |
ORPHA:581 |
Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Scoliosis, Intrauterine growth retardation, Calvarial skul... |
ORPHA:3378 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Abnormal eyebrow morphology, Short stature, Hypoplasia of the premaxilla, Tarsal... |
ORPHA:1106 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Micrognathia, Knee flexion contracture, Sparse hair, Prominent metopic ridge, Sparse ... |
OMIM:210710 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Kabuki Syndrome |
|
Ventriculomegaly, Short stature, Highly arched eyebrow, Microcephaly, Hydrocephalus, Vertebral cl... |
ORPHA:2322 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Short stature, Microcephaly, Hydrocephalus, Scoliosis, Intrauterine growth retar... |
ORPHA:250989 |
Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Anemic pallor, Short stature, Intrauterine growth retardation, Bruisin... |
OMIM:227645 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Pain insensitivity, Hyperactivity, Corneal scarring, Nail dystrophy, Self-muti... |
OMIM:256800 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Kyphosis, Genu recurvatum, Scoliosis |
OMIM:609008 |
Trichothiodystrophy 1, Photosensitive |
|
Short nose, Retrognathia, Small for gestational age, Triangular mouth |
OMIM:601675 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul... |
OMIM:143095 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu... |
OMIM:271510 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Anteverted nares, Cachexia, Micrognathia, Narrow palate, Long philtrum, Short nose |
ORPHA:109 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, Short stature, Highly arched eyebrow, Dolichoceph... |
OMIM:619325 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Thick lower lip verm... |
OMIM:230740 |
Fanconi Anemia, Complementation Group E |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:600901 |
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 |
Congenital Sialidosis Type 2 |
|
Macrocephaly, Umbilical hernia, Hydrocephalus, Generalized hypertrichosis |
ORPHA:93400 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Cleft lip, Cleft palate, Prominent nasolabial fold, ... |
ORPHA:2953 |
Alg9-Cdg |
|
Microretrognathia, Torticollis, Depressed nasal bridge, Rhizomelia, Underdeveloped nasal alae, Mi... |
ORPHA:79328 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Cleft palate, High palate, Short nose |
ORPHA:93260 |
Peters-Plus Syndrome |
|
Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Conic... |
OMIM:261540 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Depressed nasal bridge, Cleft palate, Narrow mouth, Malar flattening, S... |
OMIM:601353 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion |
OMIM:259730 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Short stature, Highly arched eyebrow, Micrognathia, Microcephaly... |
OMIM:194190 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Chops Syndrome |
|
Anteverted nares, High, narrow palate, Obesity, Downturned corners of mouth, Long philtrum, Short... |
OMIM:616368 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Micrognathia, Kyphosis, Hemivertebrae, Hip dislocation, Hypoplasia of the zygomatic b... |
ORPHA:958 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
B4Galt1-Cdg |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:79332 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
Medulloblastoma |
|
Back pain, Hydrocephalus, Progressive macrocephaly, Delayed cranial suture closure |
ORPHA:616 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Arachnoid Cyst |
|
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, H... |
ORPHA:2356 |
Zttk Syndrome |
|
Relative macrocephaly, Frontal bossing, Curly hair, Ventriculomegaly, Short stature, Craniosynost... |
OMIM:617140 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Parietal bossing, Dandy-Walker malformation, Genu varum,... |
OMIM:264090 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Communicating hydrocephalus, Craniosynostosis, Short neck, Highly arched e... |
ORPHA:309282 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short... |
ORPHA:636 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Micrognathia, Dysphagia, Intrauterine growth retardation, Short nose, Failure to t... |
OMIM:618460 |
Fanconi Anemia, Complementation Group A |
|
Bruising susceptibility, Anemic pallor, Short stature, Abnormal heart morphology |
OMIM:227650 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Ventriculomegaly, Lumbar hyperlordosis, Kypho... |
ORPHA:457359 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Cleft upper lip, Broad nasal tip,... |
OMIM:305600 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Narrow nasal ridge, Dysmetria, Gait ataxia, Dist... |
OMIM:606721 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Short neck, Hydrocephalus, Anencephaly, Holoprosencephaly, Hypoplastic nipples, Macr... |
OMIM:269860 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Short stature, Scoliosis, Microcephaly |
ORPHA:702 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Prominent metopic ridge, Short stature, Craniosynostosis, Limited wris... |
ORPHA:576 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Abnormality of the vertebral column, Abnormal vertebral morphology, Hydrocephalus |
OMIM:314390 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, Knee flexion contractur... |
OMIM:618162 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Depressed nasal bridge, Sh... |
OMIM:146510 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted nares... |
OMIM:312870 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis |
OMIM:277450 |
Walker-Warburg Syndrome |
|
Microcephaly, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:899 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Sacral dimple, Alopecia, Phalangeal dislocation, Kyphoscol... |
ORPHA:536532 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Trisomy 18 |
|
Microretrognathia, Short stature, Choanal atresia, Cachexia, Growth delay, Cognitive impairment, ... |
ORPHA:3380 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cleft soft palate... |
ORPHA:2282 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Umbilical hernia |
OMIM:601499 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Isotretinoin-Like Syndrome |
|
Microcephaly, Postnatal growth retardation, Micrognathia, Hydrocephalus, Intrauterine growth reta... |
ORPHA:2306 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Macrocephaly |
OMIM:217090 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Hemivertebrae, Holoprosencephaly |
OMIM:264480 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Micrognathia, Synophrys, Low anterior hairlin... |
OMIM:619841 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Elbow flexion contracture, Scoli... |
ORPHA:98863 |
Fanconi Anemia |
|
Frontal bossing, Short stature, Spina bifida, Micrognathia, Microcephaly, Hydrocephalus, Hip disl... |
ORPHA:84 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Short stature, Short neck, Abnormal heart morphology, Growth delay, Pa... |
ORPHA:124 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Joint dislocation, Progressive macrocephaly, Increased head circumfe... |
ORPHA:25 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Micrognathia, Hydrocephalus, Holoprosencephaly, Dolichocephaly, Midface retrusion, V... |
OMIM:612651 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Short stature, Pulmonary arterial hypertension, Atrial septal defect... |
OMIM:620186 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Short nose, Prominent nasal bridge |
OMIM:614225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis |
OMIM:253800 |
Opsismodysplasia |
|
Short nose, Depressed nasal bridge |
ORPHA:2746 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Short stature, Camptodactyly of finger, Hyperlordosis, Microcephaly, K... |
ORPHA:568 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:607155 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Short stature, Highly arched eyebrow, Micrognathia... |
OMIM:147920 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Short stature, Disproportionate short-trunk short stature, Increased size... |
ORPHA:457395 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:98855 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Degcags Syndrome |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pulmona... |
OMIM:619488 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Scoliosis |
OMIM:254090 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormality of the denti... |
ORPHA:261112 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Thin eyebrow, Midface retrusion |
OMIM:609944 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Micrognathia |
OMIM:243440 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Short nose |
OMIM:200600 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Microcephaly, Sparse eyebrow, Kyphosis, Dilated third v... |
ORPHA:464738 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Knobloch Syndrome |
|
Occipital encephalocele, Abnormal hair morphology, Hydrocephalus, Midface retrusion, Calvarial sk... |
ORPHA:1571 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Brachycephaly, Spina bifida occulta, Dandy-Walker malformation, Dislocated radial head,... |
OMIM:135900 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
22Q11.2 Deletion Syndrome |
|
Turricephaly, Short stature, Abnormal dental enamel morphology, Spina bifida, Short neck, Microgn... |
ORPHA:567 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Short philtrum, High palate, Hyperplasia of the maxilla, Microretrognathia, ... |
OMIM:613406 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Ataxia, Gait disturbance, Adrenal insufficiency |
OMIM:614863 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Macrocephaly |
ORPHA:398124 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Sacral dimple, Severe short stature, Abnormal dental enamel ... |
ORPHA:2556 |
Cono-Spondylar Dysplasia |
|
Short nail, Short neck, Kyphosis, Scoliosis, Midface retrusion |
ORPHA:420794 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Lathosterolosis |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Gingival overgrowth, Thin vermilion border, Hi... |
OMIM:607330 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate,... |
ORPHA:1449 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Short stature |
ORPHA:31 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbou... |
OMIM:619522 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Macrocephaly |
ORPHA:97339 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Elbow flexion contracture, Scoliosis |
ORPHA:98853 |
Mirage Syndrome |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Scoliosis |
OMIM:617053 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Scoliosis |
ORPHA:1335 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:79107 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Short stature, Kyphosis, Macrocephaly, Thickened calvaria |
OMIM:239000 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Pigmentary retinopathy, Lateral ventricle dilatation, Dilated th... |
OMIM:613154 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Short stature |
ORPHA:1861 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Short stature, Rhizomelia, Abnormal dental enamel morphology, Short nec... |
ORPHA:818 |
Noonan Syndrome 1 |
|
Failure to thrive in infancy, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palat... |
OMIM:163950 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Lumbar hyperlordosis, Thick hair, Short neck, Hydrocephalus,... |
ORPHA:505248 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Kyphosis, Melanocytic nevus, Scoliosis, Multi... |
ORPHA:1969 |
Rett Syndrome |
|
Kyphosis, Secondary microcephaly, Short stature, Scoliosis |
OMIM:312750 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Brachycephaly, Low anterior hairline, Contrac... |
OMIM:618223 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Numerous pigmented freckles, Short stature, Hydrocephalus, Microcephaly |
ORPHA:220295 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short nose, Long philtrum |
OMIM:258480 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Hydrocephalus, Macrocephaly |
ORPHA:65285 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Hydrocephalus, Delayed puberty, Hyperpigmen... |
ORPHA:168569 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Short neck, Hydrocephalus, Growth delay, Intrauterine growth re... |
OMIM:614083 |
Cowden Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis |
OMIM:615108 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Opisthotonus, Macroglo... |
OMIM:269150 |
Alstrom Syndrome |
|
Alopecia, Short stature, Kyphosis, Pigmentary retinopathy, Hyperostosis frontalis interna, Scoliosis |
OMIM:203800 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Hydrocephalus, Micrognathia |
ORPHA:3301 |
Functioning Gonadotropic Adenoma |
|
Hydrocephalus, Abnormality of secondary sexual hair, Delayed puberty |
ORPHA:91348 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Wide cranial sutures, Brachycephaly, Umbilical hern... |
OMIM:618188 |
C Syndrome |
|
Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Failure to thriv... |
ORPHA:1308 |
Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
47,Xyy Syndrome |
|
Hydrocephalus, Macrocephaly |
ORPHA:8 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Opisthotonus, Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Fucosidosis |
|
Kyphosis, Abnormality of the nail, Brachycephaly, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Delayed p... |
ORPHA:54595 |
Trisomy 8P |
|
Sacral dimple, Short neck, Microcephaly, Hydrocephalus, Metopic suture patent to nasal root, Low ... |
ORPHA:264450 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Failure to thrive, Anteverted nares |
ORPHA:3339 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis, Micrognathia |
OMIM:615381 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Intraute... |
ORPHA:1780 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Orofacial cleft, Thin vermilion border, Everted lower ... |
ORPHA:1519 |
Spondylocarpotarsal Synostosis Syndrome |
|
Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Short no... |
OMIM:272460 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Axillary frecklin... |
ORPHA:363700 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis |
OMIM:615109 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Scoliosis |
OMIM:609541 |
Cerebral Visual Impairment |
|
Hydrocephalus, Microcephaly |
ORPHA:447788 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Yunis-Varon Syndrome |
|
Sparse scalp hair, Wide cranial sutures, Short stature, Sparse eyelashes, Abnormal occipital bone... |
ORPHA:3472 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Hydrocephalus, Holoprose... |
ORPHA:2166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Micrognathia, Microcephaly, Meningoencephalocele, Hydr... |
OMIM:236670 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum |
OMIM:614185 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Hypoplastic vertebral bodies, Sparse hair, Short stature, Cranial asymmetry, Widely pa... |
ORPHA:3455 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate |
ORPHA:90065 |
Semilobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... |
ORPHA:220386 |
Postencephalitic Parkinsonism |
|
Kyphosis, Abnormal CSF protein concentration, Camptocormia, CSF lymphocytic pleiocytosis |
ORPHA:97349 |
Alobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Hip dislocation, Growth delay, Neural tube... |
ORPHA:93924 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Micrognathia |
ORPHA:1237 |
Wolf-Hirschhorn Syndrome |
|
Frontal bossing, Sacral dimple, Highly arched eyebrow, Micrognathia, Microcephaly, Kyphosis, Abno... |
ORPHA:280 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Frontal bossing, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Microcephal... |
OMIM:607872 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Failure to thrive in infancy, Broad nasal tip, Micrognathia, Abnormali... |
ORPHA:798 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Flexion con... |
ORPHA:88628 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Genu va... |
ORPHA:583 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Whipple Disease |
|
Arthritis, Hydrocephalus, Generalized hyperpigmentation |
ORPHA:3452 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Occipital encephalocele, Natal tooth, Ventriculomegaly, Camptodactyly o... |
OMIM:249000 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Delayed eruption of teeth, Broad-based gait, Depressed nasal bridge, Decre... |
OMIM:619503 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Low anterior hairline |
ORPHA:261222 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short statu... |
ORPHA:199 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Flat occiput, Micrognathia, Short stature, Abnormal dental enamel morpholo... |
ORPHA:534 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Otosclerosis, Abnormality of retin... |
ORPHA:580 |
Atelosteogenesis, Type I |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Malar flattening, Short nose |
OMIM:108720 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Carious teeth, Kyphosis, Elbow dislocation, Abnormal form of the vertebral... |
ORPHA:2769 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... |
ORPHA:93357 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Short stature |
OMIM:602361 |
Mgat2-Cdg |
|
Kyphosis, Progressive microcephaly, Long eyelashes, Hypoplastic nipples, Scoliosis, Dolichocephal... |
ORPHA:79329 |
Jacobsen Syndrome |
|
Anteverted nares, Short stature, Wide nasal bridge, Growth delay, Attention deficit hyperactivity... |
ORPHA:2308 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Short neck, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly |
OMIM:616546 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Coccidioidomycosis |
|
Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Arthritis, Abnormality... |
ORPHA:228123 |
Geleophysic Dysplasia 1 |
|
Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:231050 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly, Dilated third ventricle |
OMIM:619575 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Pigmentary retinopathy, Scoliosis, Juvenile r... |
OMIM:266270 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Depressed nasal bridge, Anteverted nares, Abnormality... |
ORPHA:536471 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Microcephaly, Hydrocephalus, Genu valgum, Intrauterine growth retardatio... |
OMIM:619321 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Scoliosis |
OMIM:158350 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Progressive microcephaly, Midface retrusion, Scoliosis |
OMIM:613454 |
Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Postnatal growth retardation, Intrauterine growth retardation, Short... |
ORPHA:3338 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Microcephaly, Broad skull, Hydrocephalus, Aplasia/Hypoplasia of the nails |
ORPHA:163979 |
Peters Plus Syndrome |
|
Frontal bossing, Sacral dimple, Short stature, Rhizomelia, Short neck, Postnatal growth retardati... |
ORPHA:709 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Microcephaly |
ORPHA:395 |
Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Micrognathia, Postnatal growth retardation, Short neck, Hydrocephalus, Frontal ... |
OMIM:268300 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Short stature, Kyphosis, Scoliosis, Hypopigmentation of the skin, Ventr... |
ORPHA:398069 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the nails, Microcephaly, Micrognathia |
OMIM:619123 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the ver... |
ORPHA:2369 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Hyperconvex nail |
OMIM:258850 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Increased head circumference, Lateral ventricle dilatation |
OMIM:612301 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Frontal bossing, Alopecia, Severe short stature, Absent eyebrow, Abnormal dental enamel morpholog... |
ORPHA:2273 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:244 |
Neurooculorenal Syndrome |
|
Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Aqueductal stenosis, Hydroceph... |
OMIM:620305 |
Omodysplasia 1 |
|
Depressed nasal bridge, Micrognathia, Wide nasal bridge, Long philtrum, Malar flattening, Short nose |
OMIM:258315 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ... |
ORPHA:2729 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Depressed nasal ridge, Gonadotropin deficiency, Pa... |
ORPHA:672 |
Arterial Tortuosity Syndrome |
|
Malar flattening, Short nose, Abnormal zygomatic bone morphology, Median cleft lip and palate |
ORPHA:3342 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Short neck, Kyphosis, Elbow flexion contracture, Knee flex... |
OMIM:619194 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Hyperlordosis, Postnatal growth retardation, Kyphosis, Short neck, Microgna... |
OMIM:113620 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Heterochromia iridis, Macrocephaly |
ORPHA:3205 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Microcephaly, Kyphosis, Birth length less than 3rd percentile, Scolios... |
ORPHA:464311 |
Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Scoliosis |
ORPHA:392 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Primrose Syndrome |
|
Sparse scalp hair, Hip contracture, Short stature, Absent facial hair, Hypoplasia of the maxilla,... |
OMIM:259050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Obesity, Downturned corners of mouth, G... |
ORPHA:444077 |
Stromme Syndrome |
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Hydrocephalus, Microcephaly, Micrognathia |
OMIM:243605 |
Loeys-Dietz Syndrome 1 |
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Craniosynostosis, Micrognathia, Hydrocephalus, Cervical spine instability, Scoliosis, Retrognathia |
OMIM:609192 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Laurin-Sandrow Syndrome |
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Hydrocephalus, Tarsal synostosis, Abnormality of the wrist |
ORPHA:2378 |
Autosomal Recessive Ataxia, Beauce Type |
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Ankle clonus, Kyphosis, Scoliosis |
ORPHA:88644 |
Phocomelia, Schinzel Type |
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High, narrow palate, Short nose, Cleft palate, Micrognathia |
ORPHA:2879 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Relative macrocephaly, Frontal bossing, Kyphoscoliosis, Kyphosis, Macrocephaly, Increased head ci... |
OMIM:300967 |
1P36 Deletion Syndrome |
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Frontal bossing, Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Delayed cra... |
ORPHA:1606 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Disproportionate short-limb short stature, Facial cleft |
ORPHA:93271 |
Aspartylglucosaminuria |
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Mandibular prognathia, Abnormality of the dentition, Carious teeth, Wide nasal bridge, Gingival o... |
ORPHA:93 |
Occipital Horn Syndrome |
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Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Genu valgum, Growth delay,... |
OMIM:304150 |
Noonan Syndrome 3 |
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High palate, Hypoplastic nasal bridge, Anteverted nares, Short nose |
OMIM:609942 |
Atelis Syndrome 2 |
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Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis |
OMIM:620185 |
X-Linked Intellectual Disability, Snyder Type |
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Mandibular prognathia, Short stature, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Patchy... |
ORPHA:3063 |
Tetrasomy 9P |
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Joint dislocation, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, Short neck, Pi... |
ORPHA:3310 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Short stature, Microcephaly, Kyphosis, Scoliosis, Primary microcephaly, Intrauterine growth retar... |
ORPHA:464306 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Torticollis, Micrognathia, Wide nasal bridge, Thin vermilion border, High palate, U-Shaped upper ... |
OMIM:609945 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Ventriculomegaly |
OMIM:219730 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Short stature, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly |
OMIM:309801 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Ankle clonus, Kyphosis, Scoliosis |
OMIM:211530 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus, Retrognathia |
ORPHA:2736 |
Gaucher Disease Type 1 |
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Kyphosis, Osteoarthritis, Growth delay, Delayed puberty, Vertebral compression fracture |
ORPHA:77259 |
Pituitary Adenoma 4, Acth-Secreting |
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Kyphosis, Vertebral compression fracture, Hirsutism, Biconcave vertebral bodies |
OMIM:219090 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Growth delay, Brittle hair, Communicating hydrocephalus |
OMIM:616084 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Camptodactyly of finger, Micrognathia, Short neck, Hydrocephalus, Short umbilica... |
OMIM:208150 |
Meckel Syndrome |
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Encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, D... |
ORPHA:564 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Pigmentary retinopathy, Hydrocephalus, Microcephaly |
OMIM:277400 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Kyphosis, Scoliosis |
OMIM:617143 |
Smith-Lemli-Opitz Syndrome |
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Microretrognathia, Sacral dimple, Short stature, Micrognathia, Microcephaly, Hydrocephalus, Hip d... |
OMIM:270400 |
Osteoporosis-Pseudoglioma Syndrome |
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Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave verteb... |
OMIM:259770 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Communicating hydrocephalus |
ORPHA:2184 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hydrocephalus, Brachycephaly, Growth delay, Scoliosis, Delayed puberty, Thoracolumbar kyphosis, V... |
ORPHA:2072 |
Marfan Syndrome |
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Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Micrognathia, Kyphosis, Mening... |
ORPHA:558 |
Genitourinary And/Or Brain Malformation Syndrome |
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Aplasia of the nasal bone, Micrognathia, Attention deficit hyperactivity disorder, Long philtrum,... |
OMIM:618820 |
Congenital Ptosis |
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Prominent metopic ridge, Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Knee flexion contracture, Kyphosis, Dolichocephaly, Micrognathia |
OMIM:619708 |
Simpson-Golabi-Behmel Syndrome |
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Mandibular prognathia, Anteverted nares, Cleft upper lip, High, narrow palate, Wide nasal bridge,... |
ORPHA:373 |
Proteus Syndrome |
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Central heterochromia, Abnormal form of the vertebral bodies, Abnormality of skin pigmentation, A... |
ORPHA:744 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Poland Syndrome |
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Encephalocele, Short neck, Microcephaly, Kyphosis, Hemivertebrae, Finger symphalangism, Low poste... |
ORPHA:2911 |
Lowe Oculocerebrorenal Syndrome |
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Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Wrist swelling, H... |
OMIM:309000 |
Aspartylglucosaminuria |
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Short stature, Microcephaly, Kyphosis, Brachycephaly, Platyspondyly, Spondylolysis, Scoliosis, Be... |
OMIM:208400 |
Cockayne Syndrome Type 3 |
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Dry hair, Mild postnatal growth retardation, Carious teeth, Kyphosis, Premature graying of hair, ... |
ORPHA:90324 |
Loeys-Dietz Syndrome 3 |
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Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... |
ORPHA:99413 |
Mosaic Monosomy X |
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Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... |
ORPHA:99228 |
Monosomy X |
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Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... |
ORPHA:99226 |
Turner Syndrome |
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Short neck, Micrognathia, Hypoplastic toenails, Hyperconvex fingernails, Alopecia, Short stature,... |
ORPHA:881 |
Dextrocardia |
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Hydrocephalus, Congenital hip dislocation |
ORPHA:1666 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Depressed nasal bridge, Failure to thrive in infancy, Hypoplasia of the maxilla, Wide nasal bridg... |
ORPHA:500150 |
Hec Syndrome |
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Communicating hydrocephalus |
ORPHA:2119 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Concave nasal ridge, High palate, Lo... |
OMIM:271665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hydrocephalus, Pallor |
OMIM:253280 |
Acromegaly |
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Mandibular prognathia, Broad jaw, Frontal bossing, Generalized hyperpigmentation, Abnormal finger... |
ORPHA:963 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Oligoarthritis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Somatomammotropinoma |
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Mandibular prognathia, Broad jaw, Frontal bossing, Generalized hyperpigmentation, Abnormal finger... |
ORPHA:314769 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Hypoplastic toenails, Aqueduc... |
OMIM:306955 |
Camurati-Engelmann Disease |
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Delayed eruption of teeth, Frontal bossing, Hyperlordosis, Carious teeth, Kyphosis, Genu valgum, ... |
ORPHA:1328 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Microretrognathia, Thin upper lip vermilion, Cleft palate, Short columella, High palate, Narrow m... |
OMIM:601776 |
Acromesomelic Dysplasia 1 |
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Short nose |
OMIM:602875 |
Congenital Disorder Of Glycosylation, Type Ia |
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Dilated fourth ventricle, Kyphosis, Microcephaly |
OMIM:212065 |
Liver Disease, Severe Congenital |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Biliary hyperplasia, Intrahepatic chol... |
OMIM:619991 |
Acrocephalopolydactylous Dysplasia |
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Short nose |
OMIM:200995 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |
Oeis Complex |
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Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Sacral segmentation defect, ... |
OMIM:258040 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Loeys-Dietz Syndrome 2 |
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Protrusio acetabuli, Craniosynostosis, Micrognathia, Hydrocephalus, Joint contracture of the hand... |
OMIM:610168 |
Femoral-Facial Syndrome |
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Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Long philtrum, S... |
OMIM:134780 |
Gaucher Disease |
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Joint dislocation, Short stature, Hydrocephalus, Osteoarthritis, Abnormality of skin pigmentation... |
ORPHA:355 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hydrocephalus, Ventriculomegaly |
ORPHA:228308 |
Fraser Syndrome 3 |
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Hydrocephalus, Micrognathia |
OMIM:617667 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly |
OMIM:313850 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Hydrocephalus |
ORPHA:157 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Osteootohepatoenteric Syndrome |
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Hydrocephalus |
OMIM:619377 |
Lymphedema-Distichiasis Syndrome |
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Yellow nails, Kyphosis, Distichiasis, Micrognathia |
OMIM:153400 |
Classic Homocystinuria |
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Abnormality of retinal pigmentation, Sparse scalp hair, Kyphosis, Genu valgum, Scoliosis |
ORPHA:394 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Hellp Syndrome |
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Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Yunis-Varon Syndrome |
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Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia,... |
OMIM:216340 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus |
OMIM:244400 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Hyperpigmentation of the skin |
ORPHA:637 |
Cowden Syndrome |
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Short stature, Kyphosis, Hypopigmented skin patches, Melanocytic nevus, Scoliosis, Macrocephaly, ... |
ORPHA:201 |
Superficial Siderosis |
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Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Hypopigmentation of the skin, Ventriculomegaly, Hip contracture, Cranios... |
ORPHA:821 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Kyphosis |
OMIM:219080 |
Multiple Endocrine Neoplasia, Type Iib |
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Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis |
OMIM:162300 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis |
OMIM:300942 |
Viss Syndrome |
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Microretrognathia, Frontal bossing, Sparse scalp hair, Alopecia, Short stature, Recurrent joint d... |
OMIM:619472 |
Gaucher Disease, Type Iiic |
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Hydrocephalus |
OMIM:231005 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Di... |
OMIM:300106 |
Tuberous Sclerosis Complex |
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Noncommunicating hydrocephalus, Hypertension, Internal hemorrhage, Cardiac rhabdomyoma |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... |
ORPHA:286 |
Yellow Fever |
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Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... |
ORPHA:99829 |
Lymphangioleiomyomatosis |
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Abnormality of skin pigmentation, Ungual fibroma, Hydrocephalus |
ORPHA:538 |
Goodpasture Syndrome |
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Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Meningioma |
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Back pain, Hydrocephalus |
ORPHA:2495 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Short stature, Scoliosis |
OMIM:182210 |
Cryptococcosis |
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Hydrocephalus |
ORPHA:1546 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus |
ORPHA:137667 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Hydrocephalus |
OMIM:261740 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Exstrophy-Epispadias Complex |
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Abnormal joint morphology, Hydrocephalus, Spina bifida, Microcephaly |
ORPHA:322 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal ... |
OMIM:601803 |
Triosephosphate Isomerase Deficiency |
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Kyphosis |
OMIM:615512 |
Tetraamelia Syndrome 1 |
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Hydrocephalus, Micrognathia |
OMIM:273395 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis |
ORPHA:171629 |
Hydrolethalus Syndrome 1 |
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Micrognathia, Anencephaly, Severe hydrocephalus, Intrauterine growth retardation, Dandy-Walker ma... |
OMIM:236680 |
Hypoplasminogenemia |
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Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
17Q11 Microdeletion Syndrome |
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Short stature, Freckling, Hypermelanotic macule, Kyphosis, Abnormality of the vertebral column, B... |
ORPHA:97685 |
Penile Agenesis |
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Short nose, Depressed nasal bridge |
ORPHA:49 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Frontal bossing, Short stature, Aqueductal stenosis, Hydrocephalus, Knee dislocation, Lateral ven... |
OMIM:619534 |
Townes-Brocks Syndrome 1 |
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Microcephaly, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Metatarsal synostosis |
OMIM:107480 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology |
ORPHA:79318 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hydrocephalus |
OMIM:175780 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Short stature, Frontal balding, Kyphosis, Fine h... |
ORPHA:64 |