Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Short Stature, Brussels Type |
|
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of... |
ORPHA:2867 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Narrow face, Ulnar deviation of the wrist, Depressed nasal... |
ORPHA:1529 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Short stature, T... |
OMIM:613792 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... |
OMIM:614078 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Short stature, Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Low-set ears, Int... |
OMIM:612626 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face |
ORPHA:293707 |
Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Micrognathia, Postnatal growth retardati... |
OMIM:615419 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Mesomelia-Synostoses Syndrome |
|
Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finge... |
ORPHA:2496 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Alazami Syndrome |
|
Wide nose, Severe short stature, Depressed nasal bridge, Wide nasal bridge, Low-set ears, Triangu... |
OMIM:615071 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Short stature, Rock... |
OMIM:601680 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ... |
ORPHA:217340 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Round face, Anteverted nares, Prominent na... |
ORPHA:2332 |
17P11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Micrognathia, EEG abnormality, Triangular face,... |
ORPHA:1713 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Round face, Anteverted nares, Camptodactyly of finger, Promine... |
ORPHA:1716 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Short nose |
ORPHA:2015 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Arthrogryposis, Distal, Type 2B2 |
|
Sandal gap, Ulnar deviation of the wrist, Broad hallux, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Delayed closure of the anterior fontanelle, Postnatal growth retardation, Protrudi... |
ORPHA:231140 |
Congenital Myopathy 19 |
|
Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Low-set ears, Triangular face, Hea... |
OMIM:618578 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... |
OMIM:620010 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Abnormal facial shape, Low-set ears, Short nose |
ORPHA:46 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Microtia, Triangular face, Micrognathia |
ORPHA:939 |
Distal 17P13.1 Microdeletion Syndrome |
|
Triangular face, Arachnodactyly, Prominent nasal bridge, Limited elbow movement, Retrognathia, Pr... |
ORPHA:319171 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Anteverted nares, Short stature, Micrognathia, Persistence of primary teeth, Sensorineural hearin... |
OMIM:618342 |
Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular diameter, P... |
OMIM:619489 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Short stature, Long nose, Protruding ear, EEG abnormality, Abnormal facial shape, Triangular face... |
ORPHA:85329 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Triangular face, Prominent nasal bridge... |
ORPHA:1110 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Abnormal facial shape, Short 5th finger, Cubitus valgus, Clinodactyly, Sh... |
OMIM:300577 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Short stature, Cartilage destruction |
ORPHA:2380 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauterine gr... |
OMIM:616910 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Long face, Brachydactyly, Short stature, Anteverted nares, Posteriorly rotated ears, Micrognathia... |
OMIM:613604 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Low-set ears, Ma... |
ORPHA:1832 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Round face, Short stature, Depressed nasal bridge, Bulbous nos... |
ORPHA:369891 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Round face, Short stature, Coxa valga, Genu valgum, Conductive hearing impa... |
OMIM:132450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Posteriorly rotated ears, 2-3 toe syndactyly, Intrauterine growth retardati... |
OMIM:617352 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Postnatal growth retardation, Severe intrauterine growth retardation, Clinodactyly... |
ORPHA:231144 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal pelvic girdle bone morphology, Hip dys... |
ORPHA:2370 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Stickler Syndrome, Type Iv |
|
Epiphyseal dysplasia, Short stature, Flat capital femoral epiphysis, Sensorineural hearing impair... |
OMIM:614134 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Joint dislocation, Severe short stature, Anteverted nares, Sandal gap, Abnor... |
ORPHA:3051 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Short stature, Micrognathia, Dental malocclusion, EEG abnormality, Promine... |
OMIM:610883 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... |
OMIM:224120 |
Acromicric Dysplasia |
|
Round face, Severe short stature, Anteverted nares, Short metacarpal, Decreased nerve conduction ... |
ORPHA:969 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Hip contracture, Triangular face, Anteverted nares, Prominent ... |
ORPHA:371364 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Protr... |
ORPHA:96148 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... |
OMIM:155050 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short stature, Growth delay, Abnormal facial shape, Short nose, Macrotia |
ORPHA:438178 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Dentinogenesis imperfecta, Tibial bowi... |
OMIM:259420 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short ... |
OMIM:616420 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short stature, Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal sep... |
OMIM:302950 |
Three M Syndrome 3 |
|
Anteverted nares, Short stature, Protruding ear, Growth delay, Slender long bone, Hip dysplasia, ... |
OMIM:614205 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Protrudin... |
OMIM:609625 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Round ear |
ORPHA:1450 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Micrognathia, Sensorine... |
ORPHA:1131 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Prominent no... |
OMIM:616801 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Hip dysplasia, Sensorineural hearing impairment |
OMIM:618379 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascular necrosis of the... |
ORPHA:77258 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Proximal placement of... |
ORPHA:1825 |
Al Kaissi Syndrome |
|
Depressed nasal bridge, Short stature, Posteriorly rotated ears, Broad nasal tip, Postnatal growt... |
OMIM:617694 |
Three M Syndrome 1 |
|
Joint dislocation, Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Short stature... |
OMIM:273750 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Severe short stature, Cone-shaped metacarpal epiphyses, Bowing ... |
ORPHA:1240 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Depressed nasal bridge, Anteverted nares, Short ... |
OMIM:612921 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Optic atrophy, Deviation of finger, Congenital finger flexion contractures, Macro... |
ORPHA:1154 |
Silver-Russell Syndrome 5 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Triangular face |
OMIM:618908 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Postnatal growth retardation, Small hand, Antecubital pterygium, Low-s... |
OMIM:616489 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,... |
OMIM:616278 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Posteriorly rot... |
OMIM:618829 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Short stature, Camptodactyly, Overlapping fingers, Triangular face, Adducted thumb |
OMIM:618436 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Round face, Anteverted nares, Short stature, Depressed nasal ridge, Short nose |
ORPHA:1355 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Short stature, Postnatal growth retardation, Clinodactyly of the 5th fi... |
ORPHA:231137 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, ... |
ORPHA:2616 |
Acrocephalopolydactyly |
|
Genu recurvatum, Depressed nasal ridge, Short long bone, Microtia, Short nose, Brachydactyly |
ORPHA:221054 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Prominent metopic ridge, Coarse facial features, Depressed nas... |
ORPHA:363659 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of the maxilla, Bulbous nose, Hip disl... |
ORPHA:481152 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Large face, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Mandibular prognathia, Depres... |
ORPHA:2831 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Wide nasal bridge, Slender long bone, Meta... |
ORPHA:2774 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Short stature, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... |
OMIM:613805 |
Silver-Russell Syndrome 2 |
|
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Clin... |
OMIM:618905 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Short stature, Micrognathia, Sensorineural hearing impairment, Genu valgum,... |
ORPHA:250984 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Long face, Rhizomelia, Short stature, Depressed nasal bridge, Craniosynostosis, Micrognathia, Bul... |
OMIM:614114 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... |
OMIM:616299 |
Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Depressed nasal bridge, Triangular face |
OMIM:617532 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... |
OMIM:619636 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis involving tar... |
OMIM:166300 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Short stature, Dentinogenesis imperfecta, Abnormal pelvi... |
OMIM:610967 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Mandibular prognathia, Narrow face, Long face, Low-set, posteriorly rotated ear... |
ORPHA:1327 |
Partington Syndrome |
|
EEG abnormality, Triangular face, Camptodactyly |
OMIM:309510 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Tremor, Hyperbilirubinemia |
ORPHA:713 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Short stature, Thickened cortex of long bones, Dental malocclu... |
OMIM:253250 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Triangular face, Short stature, Arachnodactyly, Hearing impairment, Wide dista... |
OMIM:614856 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorl... |
OMIM:618316 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Depressed nasal bridge, Short stature, Recurrent upper respiratory tract infec... |
ORPHA:314389 |
Silver-Russell Syndrome 4 |
|
Birth length less than 3rd percentile, Triangular face |
OMIM:618907 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Underdeveloped nasal alae, Micrognathia, Sensorine... |
OMIM:269880 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Optic atrophy, Protruding ear, Growth delay... |
ORPHA:1495 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Sensorineural hearing impairmen... |
ORPHA:71267 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Short stature, Triangular face |
ORPHA:29 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Anteverted ears, Abnormal facial shape, Macrotia, Triangular face, Long face |
ORPHA:544254 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Legius Syndrome |
|
Posteriorly rotated ears, Triangular face, Low-set ears, Micrognathia |
OMIM:611431 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Round face, Depressed nasal bridge, Short stature, Anteverted nares, Iliac crest serra... |
OMIM:613320 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Micrognathia, Short nos... |
ORPHA:1695 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe short stature, Rhizomelia, Depressed nasal bridge, Micrognathia, Sensorineural hearing imp... |
OMIM:215100 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... |
OMIM:311300 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Depressed nasal bridge, Growth delay, Microtia, Camptodactyly, Abnormal facial shape,... |
OMIM:616006 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Epiphyse... |
ORPHA:1914 |
Alazami Syndrome |
|
Wide nose, Postnatal growth retardation, Slender long bone, Low-set ears, Triangular face |
ORPHA:319671 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Round face, Depressed nasal bridge, Bulbous nose, Low-set ears, Clinodactyly, Macrotia, Triangula... |
OMIM:616789 |
Chopra-Amiel-Gordon Syndrome |
|
Short stature, Postnatal growth retardation, Flared nostrils, EEG abnormality, Thick nasal alae, ... |
OMIM:619504 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Protrusio acetabuli, Dentinogenesis imperfecta, Coxa vara, Wormian bones, Triangul... |
OMIM:610968 |
Arthrogryposis, Distal, Type 5 |
|
Short stature, Arachnodactyly, Limited wrist extension, Absent phalangeal crease, Protruding ear,... |
OMIM:108145 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Sensorineural... |
OMIM:184840 |
Pierpont Syndrome |
|
Wide nose, Short stature, Posteriorly rotated ears, Broad nasal tip, Short toe, Large fleshy ears... |
OMIM:602342 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Posteriorly rotated ears, Proximal placement of thumb, Long nose, Postnatal growth... |
OMIM:620113 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Prominent nose, Short metatarsal, Long face, Short metacarpal, Rhizomelia,... |
OMIM:614813 |
Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Short stature, Sandal gap, Micrognathia, Clinodactyly, Small hand, Wide nas... |
OMIM:270450 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Recurrent otitis media, Micrognathia, Triangular face, Hearing impairment |
OMIM:619243 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short stature, Hearing impairment, Abnormal femoral epiphysis morphology, Triangular face, Brachy... |
ORPHA:3218 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Clinodactyly of the 5th finger, Intrauterine growth retardation, Triangular face, Facial asymmetry |
ORPHA:231147 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensor... |
OMIM:109120 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Larsen-Like Syndrome |
|
Joint dislocation, Short stature, Wide anterior fontanel, Dental malocclusion, Absent nasal bridg... |
OMIM:608545 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Abnormal epiphysis m... |
ORPHA:90653 |
Keutel Syndrome |
|
Long face, Wide nose, Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Optic atr... |
ORPHA:85202 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Depressed nasal bridge, Short stature, Anteverted ... |
ORPHA:93329 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Increased total bilirubin |
ORPHA:2924 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Round face, Contracture of the proximal interphalangeal joi... |
OMIM:617201 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short statu... |
OMIM:227330 |
16P11.2P12.2 Microdeletion Syndrome |
|
Long face, Microretrognathia, Toe syndactyly, Anteverted nares, Short stature, Camptodactyly of f... |
ORPHA:261211 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Postnatal ... |
OMIM:614732 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl... |
ORPHA:950 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly,... |
ORPHA:79113 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Mandibular prognathia, Knee flexion contracture, Spina bifida occulta, Wrist f... |
OMIM:193700 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Brachydactyly, Anteverted nares, Short stature, Carious teeth,... |
ORPHA:2701 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short stature, Sensorineural hearing impairment, Short toe, Ulnar deviation of fi... |
ORPHA:921 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Abnormal finger morphology, Abnormal facial ... |
DECIPHER:81 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Yuan-Harel-Lupski Syndrome |
|
Wide nose, Sandal gap, Decreased nerve conduction velocity, Clinodactyly of the 5th finger, Talip... |
OMIM:616652 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
20Q13.33 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hallux valgus, Short lower limbs, Tapered finger, Prominent cr... |
ORPHA:261311 |
Sotos Syndrome |
|
Mandibular prognathia, Narrow face, Triangular face, Depressed nasal bridge, Anteverted nares, Po... |
OMIM:117550 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Low-set ears, Clinodactyly of the 5th finger, Short nose |
ORPHA:217385 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Postnatal growth retardation, Short 5th finger, Polydactyly, Low-set ea... |
ORPHA:397590 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clin... |
ORPHA:261120 |
Ohdo Syndrome, X-Linked |
|
Long face, Coarse facial features, Depressed nasal bridge, Posteriorly rotated ears, Overlapping ... |
OMIM:300895 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Narrow face, Anteverted nares, Round face, Proportionate short stature, Deviation of t... |
ORPHA:391408 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Large face, Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Triangular face |
OMIM:614883 |
Kniest Dysplasia |
|
Hip contracture, Round face, Enlarged joints, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped... |
OMIM:156550 |
Hennekam-Beemer Syndrome |
|
Wide nose, Short stature, Camptodactyly of finger, Micrognathia, Long nose, Optic atrophy, Wide n... |
ORPHA:2135 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Coarse facial features, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, S... |
ORPHA:93346 |
Short Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Sensorineural hearing impairment, Wide n... |
ORPHA:3163 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Long face, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Postnatal growth retardatio... |
ORPHA:480907 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... |
OMIM:619736 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, Short nose, EEG with centrotemporal focal spike wav... |
OMIM:245570 |
Steel Syndrome |
|
Anteverted nares, Short stature, Sensorineural hearing impairment, Hip dislocation, Wide nasal br... |
OMIM:615155 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Prominent fingertip pads, Short nose, Ma... |
OMIM:300558 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Chung-Jansen Syndrome |
|
Round face, Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Clinoda... |
OMIM:617991 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Emery-Nelson Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... |
ORPHA:1927 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Triangular face |
OMIM:301025 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent tee... |
OMIM:618506 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Abnormal thumb morphology... |
ORPHA:1842 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... |
OMIM:251450 |
3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Slender nose, Arachnodactyly, Convex nasal ridge, Low-set ears, Small earl... |
ORPHA:397695 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Split hand, Abnormal antihelix ... |
ORPHA:2145 |
Grant Syndrome |
|
Joint dislocation, Large face, Bowing of the long bones, Depressed nasal bridge, Short stature, M... |
ORPHA:2097 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Sensorineural hearing impairment, Pulp calcification... |
OMIM:166750 |
Cutis Laxa, Autosomal Dominant 3 |
|
Postnatal growth retardation, Hip dislocation, Protruding ear, Low-set ears, Wormian bones, Intra... |
OMIM:616603 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, Protrudin... |
OMIM:612940 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Hemifacial hypoplasia, Micrognathi... |
ORPHA:536471 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Long face, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity... |
OMIM:218000 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Fa... |
OMIM:269920 |
Ohdo Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Wide nasal bridge, Hypopla... |
OMIM:249620 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurren... |
ORPHA:3078 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Short middle phalanx of the 5th finger, Micrognathia, Short distal phalanx of the 5th... |
OMIM:180860 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Broad thumb, Wormian bones, Short 4th metacarpal, Triangular face, Sh... |
OMIM:619638 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Sensori... |
OMIM:607143 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of pro... |
OMIM:300863 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Triangular face, Low-set ears |
ORPHA:65288 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Low-set ears, Flat face |
OMIM:614859 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Camptodac... |
ORPHA:2994 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused... |
OMIM:609053 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Simosa Craniofacial Syndrome |
|
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, Hearin... |
OMIM:182150 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla, Persistence ... |
ORPHA:37553 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Triangular face, Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural... |
OMIM:616541 |
Thanatophoric Dysplasia |
|
Brachydactyly, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispr... |
ORPHA:2655 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Triangular face, Depressed nasal bridge, Short stature, Sensorineural hearing impairment, Gout, L... |
OMIM:300661 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brachydactyly, Prominent nasal bridge, Long nose, Postnatal growth retardation, Short long bone, ... |
OMIM:619184 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short stature, Protruding ear, Short foot, Low-set ears, Short palm, Mild short stature, Flat fac... |
OMIM:618522 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Sandal gap, Micrognathia, Postnatal growth reta... |
ORPHA:813 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, 2-3 toe syndactyly, Protruding ear, Join... |
OMIM:620098 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Micrognathia, S... |
OMIM:614744 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Hearing impairment, Proximal placement of thumb, Cuppe... |
OMIM:618619 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... |
OMIM:122880 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Round face, Short metacarpal, Depressed nasal bridge, Anteverted nares, Br... |
OMIM:614613 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Osteoarthritis, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportion... |
OMIM:618618 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Posteriorly rotated ears, Broad hallux, Microgna... |
OMIM:614541 |
Perlman Syndrome |
|
Round face, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ... |
ORPHA:2849 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
Ruijs-Aalfs Syndrome |
|
Short stature, Prominent nasal bridge, Down-sloping shoulders, Micrognathia, Bulbous nose, Elbow ... |
OMIM:616200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Round face, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... |
OMIM:614069 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Coarse facial features, Depressed nasal bridge, Short stature, Abnormal audito... |
OMIM:619260 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Large earlobe, Low-set ears, ... |
OMIM:617752 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Short stature, Postnatal growth retardation, Dentinogene... |
OMIM:616294 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Enlarged joints, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Li... |
ORPHA:156728 |
16Q24.3 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Hearing impairment, Proximal placement of thumb, Microg... |
ORPHA:261250 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Round face, Coarse facial features, Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognath... |
OMIM:615979 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Prominent nasal bridge, Posteriorly rotated ears, Aplasia/Hypop... |
OMIM:613803 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Congenital ... |
ORPHA:73272 |
Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Postaxial hand ... |
ORPHA:1620 |
Al-Raqad Syndrome |
|
Sandal gap, Low-set ears, Short nose, Flat face, Brachydactyly |
OMIM:616459 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... |
ORPHA:64743 |
Distal Monosomy 7Q36 |
|
Large face, Short stature, Micrognathia, Bulbous nose, Optic atrophy, Symphalangism affecting the... |
ORPHA:1636 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... |
ORPHA:171839 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Brachydactyly, Anteverted nares, Prominent nasal bridge, Short stature, Poster... |
ORPHA:1974 |
Marbach-Rustad Progeroid Syndrome |
|
Triangular face, Short stature, Femur fracture, Delayed eruption of primary teeth, Micrognathia, ... |
OMIM:619322 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Coxa ... |
ORPHA:166272 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, EEG abnormality, Shor... |
ORPHA:99688 |
Peho-Like Syndrome |
|
Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia |
OMIM:617507 |
Noonan Syndrome 14 |
|
Coarse facial features, Short stature, Prominent nasal bridge, Posteriorly rotated ears, Prominen... |
OMIM:619745 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Interictal EEG abnormality, Tapered finger, Sensorineural hearing impairment... |
ORPHA:544503 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen... |
OMIM:614886 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular sh... |
ORPHA:73230 |
Miller-Dieker Syndrome |
|
Anteverted nares, Growth delay, EEG abnormality, Clinodactyly of the 5th finger, Short nose |
ORPHA:531 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Round face, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, Macrotia |
OMIM:620292 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous ... |
OMIM:613870 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Round face, Short stature, Wide nasal bridge, Growth delay, Low-set ears, Camptodactyly, Cervical... |
OMIM:617333 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Abnormality of the ear, Triangular face |
OMIM:225060 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Prominent ear helix, Elb... |
OMIM:614438 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
High-frequency sensorineural hearing impairment, Mandibular prognathia, Postnatal growth retardat... |
ORPHA:2324 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Clinodactyl... |
OMIM:618828 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Sensorineural hearing... |
OMIM:618971 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Large ... |
ORPHA:503 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Triangular face |
ORPHA:1174 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee disloca... |
OMIM:620269 |
Partington Syndrome |
|
EEG abnormality, Triangular face |
ORPHA:94083 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal a... |
ORPHA:2083 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Short stature, Facial palsy, Prominent nose, Micrognathia, Bulbous nose, ... |
OMIM:301022 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Long face, Coarse facial features, Depressed nasal bridge, Short stature, Posteriorly rotated ear... |
OMIM:619833 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Facial asymmetry, Wide anterior fontanel, Low-set ears, Contracture o... |
ORPHA:457279 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abn... |
ORPHA:79303 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Kbg Syndrome |
|
Vertebral fusion, Round face, Syndactyly, Anteverted nares, Prominent nasal bridge, Short stature... |
OMIM:148050 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Coarse facial features, Short stature, Prominent nose, Wide nasal bridge, Symphalangism affecting... |
ORPHA:1292 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Overlappin... |
OMIM:612394 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridg... |
ORPHA:464288 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Short stature, Optic atroph... |
ORPHA:1185 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Prominent fingertip pads, Broad nasal tip, Clinodactyly, Recurrent upper r... |
ORPHA:391372 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger, Lon... |
OMIM:601358 |
Transaldolase Deficiency |
|
Depressed nasal bridge, Wide anterior fontanel, Low-set ears, Intrauterine growth retardation, Tr... |
OMIM:606003 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... |
OMIM:608728 |
Marshall Syndrome |
|
Micrognathia, Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyse... |
OMIM:154780 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Depressed nasal bridge, Antevert... |
OMIM:215150 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Sho... |
OMIM:601224 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Growth del... |
OMIM:615716 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Abnormality of the ear, Tibial metaphyseal irregularity, Coxa vara, Incr... |
ORPHA:457395 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Short stature, Overlapping toe, Underdeveloped nasal alae, Postnatal growth ret... |
OMIM:613026 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Abnormal pinna morphology, Sandal gap, Decreased nerve conduction velocity, 2-3 toe sy... |
ORPHA:477817 |
Marshall-Smith Syndrome |
|
Distal widening of metacarpals, Coxa vara, Choanal stenosis, Prominent fingertip pads, Clinodacty... |
OMIM:602535 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Depressed nasal bridge, Bowing of the long bones, Hypoplastic ilia, A... |
ORPHA:1860 |
Verheij Syndrome |
|
Vertebral fusion, Square face, Anteverted nares, Short stature, Optic nerve hypoplasia, Broad nas... |
OMIM:615583 |
Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Short metacarpal, De... |
OMIM:615777 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hea... |
ORPHA:3258 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Genu valgum, Microtia, Severe sensorineural hearing impairment... |
ORPHA:2983 |
Halperin-Birk Syndrome |
|
Micrognathia, Optic atrophy, Hip dislocation, Intrauterine growth retardation, Triangular face, H... |
OMIM:618651 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Posteriorly rotated ears, Facial palsy, Microgna... |
ORPHA:2780 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Choanal stenosis, Low-s... |
OMIM:619859 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Micrognathia, Low-set ears, Short nose |
OMIM:613544 |
Thoracomelic Dysplasia |
|
Round face, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bo... |
ORPHA:1803 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Broad hallux, Tapered finger, Hypsarrhythmia, EEG abnormality, Retrognathia, Tr... |
OMIM:301044 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... |
ORPHA:1522 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula morphology, Radioulnar synos... |
ORPHA:1988 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, ... |
OMIM:243310 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Narrow face, Short stature, Cupped ear, Protruding ear, Growth delay, Triangular face, Long face |
ORPHA:93947 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the ... |
OMIM:618150 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Wormian bones, Pterygium, Triangular face |
ORPHA:2771 |
Trisomy 12P |
|
Short stature, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Clin... |
ORPHA:1699 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Cutaneous finger syndactyly, Low-set ... |
OMIM:606851 |
Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Short stature, Sensorineural hearing impairment, Wide nasal br... |
ORPHA:500 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Triangular face, Depressed nasal bridge, Proportionate short stature, Mi... |
OMIM:613457 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Failure to thrive, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Posteriorly rotated ears, Fractured radius, Decreased fibular diam... |
OMIM:616897 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Protruding ear, Long face, Short stature, Depressed nasal bridge, Tapered finger, L... |
OMIM:309590 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Short stature, Prominent nasal bridge, Broad nasal tip, Po... |
OMIM:223370 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Micrognathia, Wide nasal bridge, Upper limb undergrowth, Microtia, Recurrent otitis... |
ORPHA:529962 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Severe short stature, Abnormal pinna morphology, Prominent n... |
OMIM:133540 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Short stature, Hypoplasia of the maxilla, Clinodactyly, Optic atrophy, ... |
OMIM:614261 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Microtia, Sho... |
OMIM:616854 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Low-set... |
ORPHA:1895 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Absent thumb, Mi... |
ORPHA:96097 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Short stature, Anteverted nares, Sensorineural hearing impair... |
OMIM:616430 |
Distal Deletion 15Q |
|
Coarse facial features, Short stature, Broad nasal tip, Postnatal growth retardation, Micrognathi... |
ORPHA:1596 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Sensorineural hearing impairment, Wide nasal bridge, Hypsarrhythmia, Low-set ears,... |
OMIM:607906 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5... |
OMIM:613443 |
Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing i... |
ORPHA:2143 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Elbow dislocation, Metatarsu... |
ORPHA:2557 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Short stature, Prominent nasal bridge, Micrognathia, Clinodactyly of the 5th finger, A... |
ORPHA:94063 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ... |
OMIM:272460 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Wide nasal bridge, Sympha... |
ORPHA:710 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Short stature, Posteriorly rotated ears, Limited elbow movement, Sensorine... |
OMIM:151100 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Coarse facial features, Posteriorly rotated ears, Prominent nose, Postnatal growth reta... |
OMIM:615668 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Brachydactyly, Depressed nasal bridge, Short stature, Anteverted nares,... |
OMIM:616331 |
Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Hearing abnormality,... |
ORPHA:1912 |
Trisomy 10P |
|
Micrognathia, Abnormality of the ear, EEG with focal spikes, Abnormal facial shape, Abnormal hip ... |
ORPHA:171929 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Short stature, Posteriorly rotated ears, Sandal gap, Short toe, Anterior open-b... |
OMIM:617877 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Coarse facial features, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Large ea... |
ORPHA:485405 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Short stature... |
OMIM:605130 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micrognathia, Disproportionate short stature, Short foot,... |
ORPHA:93298 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Microti... |
ORPHA:2547 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Long nose,... |
ORPHA:1968 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Short stature, Craniosynostosi... |
OMIM:616723 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Epistaxis |
OMIM:211600 |
Smith-Magenis Syndrome |
|
Large face, Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Short stature, Antever... |
ORPHA:819 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... |
OMIM:611881 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Marshall Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:560 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Overfolded helix, Abnormal helix morphology, Low-set ears, ... |
ORPHA:1913 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... |
ORPHA:794 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hypoplastic il... |
OMIM:611717 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Microtia, Low-set ears, Intrauterine grow... |
OMIM:608013 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Coarse facial features, Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long b... |
OMIM:151210 |
Tetrasomy 5P |
|
Coarse facial features, Anteverted nares, Posteriorly rotated ears, Short hallux, Overlapping toe... |
ORPHA:3309 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Pugilistic facies, Hypoplasia of the ul... |
OMIM:271700 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short stature, Shoulder fl... |
OMIM:255800 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Sandal gap, Short nose |
OMIM:300887 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
Menke-Hennekam Syndrome 2 |
|
Narrow nasal bridge, Square face, Depressed nasal bridge, Overlapping toe, Sandal gap, Micrognath... |
OMIM:618333 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... |
OMIM:617802 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Short stature, Proximal placement of thumb, Micrognathia, Prea... |
OMIM:610536 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Sle... |
ORPHA:561 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Syndactyly, Delayed closure of the anterior fontanelle, Microgn... |
ORPHA:96182 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Microretrognathia, Narrow face, Short stature, Choanal atresia... |
ORPHA:3380 |
Nizon-Isidor Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Long fingers, Bulbous nose, Pro... |
OMIM:618872 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Conductiv... |
OMIM:136140 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Thanatophoric Dysplasia Type 2 |
|
Brachydactyly, Depressed nasal bridge, Short stature, Abnormal metaphysis morphology, Flat face, ... |
ORPHA:93274 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... |
ORPHA:1514 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Narrow face, Tapered finger, Micrognathia, Wide nasal bridge, Retrognathia, Hypoplasia of teeth, ... |
OMIM:620250 |
Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Short stature, Choanal atresia, Micrognathia, Small hand, Short foot, M... |
OMIM:300712 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Retrognathia, Broad nasal tip |
OMIM:613670 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micrognathia, Disproportionate short stature, Flat acetabular roof, Abn... |
ORPHA:1801 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip... |
OMIM:300749 |
Intellectual Disability-Strabismus Syndrome |
|
Long face, Short stature, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Facial asym... |
ORPHA:363528 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Short nose, Hearing impairment |
OMIM:256600 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope... |
OMIM:615866 |
Schimke Immunoosseous Dysplasia |
|
Depressed nasal bridge, Bulbous nose, Disproportionate short-trunk short stature, Wide nasal brid... |
OMIM:242900 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Short stature, Underde... |
OMIM:616007 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Triangular face |
OMIM:619264 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Depressed nasal bridge, Anteverted nares, Short stature, Posteriorly rotated ears, Postnatal grow... |
OMIM:613563 |
Achondrogenesis Type 1A |
|
Severe short stature, Anteverted nares, Micrognathia, Short foot, Short palm, Short nose, Flat face |
ORPHA:93299 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hematochezia, Hyperbilirubinemia, Steatorrhea, Failure to thrive |
OMIM:613812 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Calcaneal epiphyseal stippling, Optic nerve hypoplasia, Proportionate s... |
ORPHA:79345 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... |
ORPHA:93328 |
Witteveen-Kolk Syndrome |
|
Narrow face, Glue ear, Uplifted earlobe, Proximal placement of thumb, Clinodactyly, Protruding ea... |
OMIM:613406 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose, Coarse facial features |
ORPHA:2429 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Joubert Syndrome 27 |
|
Polydactyly, Triangular face |
OMIM:617120 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Flat face, Low-set ears |
OMIM:616994 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short stature, Posteriorly rotated ears, Broad nasal tip, Broad hallux, Sandal ... |
OMIM:618529 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micrognathia, Wide nasa... |
OMIM:224410 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarse facial features, Posteriorly rotated ears, Short stature, EEG with burst suppression, Low-... |
OMIM:617260 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres... |
ORPHA:87 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coarse facial features, Short femur, Limited elbow movement, Micrognathia, Disproportionate short... |
ORPHA:94068 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Round face, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Microtia... |
OMIM:602562 |
Campomelic Dysplasia |
|
Bowing of the long bones, Depressed nasal bridge, Short stature, Small abnormally formed scapulae... |
ORPHA:140 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Cupped ear, Depressed nasal tip, Contract... |
OMIM:618223 |
Feingold Syndrome 1 |
|
Anteverted nares, Posteriorly rotated ears, Facial asymmetry, Micrognathia, Short thumb, Short to... |
OMIM:164280 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Coarse facial features, Anteverted nares, Overlapping toe, Optic atrophy, Wi... |
OMIM:619383 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Narrow face, Convex nasal ridge, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Abn... |
ORPHA:251028 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Clinodactyly, Unilambdoid synostosi... |
OMIM:618577 |
Lethal Congenital Contracture Syndrome 9 |
|
Triangular face, Depressed nasal bridge, Anteverted nares, Micrognathia, Antecubital pterygium, L... |
OMIM:616503 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Low-set ears, Short nose, ... |
OMIM:242860 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tib... |
OMIM:601559 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose, Facial asymmetry |
ORPHA:3307 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bridge, Craniosynostosis... |
OMIM:616914 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Narrow face, Bowing of the long bones, Shor... |
ORPHA:1225 |
Achondrogenesis |
|
Severe short stature, Anteverted nares, Micrognathia, Short nose, Flat face |
ORPHA:932 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, EEG abnormality |
OMIM:618218 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Syndactyly, Anteverted nares, Short stature, Wide nasal bridge, Coxa vara, 2-3 ... |
OMIM:614701 |
Floating-Harbor Syndrome |
|
Enlarged joints, Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Conductive hearing... |
ORPHA:2044 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Anteverted nares, Choanal atresia, Short stature, Posteriorly rotated ears, Abnormal ... |
OMIM:616975 |
Renpenning Syndrome 1 |
|
Long face, Mandibular prognathia, Narrow face, Short stature, Hearing impairment, Micrognathia, B... |
OMIM:309500 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... |
OMIM:614524 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Abnormal facial shape, Depressed nasal ridge, Flat face |
OMIM:266510 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all distal... |
OMIM:614749 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Hip dislocation, Abnormal facial shape, Low-set ears, Short nose |
OMIM:608776 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Aarskog-Scott Syndrome |
|
Short palm, Hyperextensibility of the finger joints, Round face, Syndactyly, Anteverted nares, Sh... |
OMIM:305400 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Chronic otitis media, Small earlobe, Prominent antitragus... |
OMIM:616268 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Short stature, Posteriorly rotated ... |
OMIM:601088 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Persistent open anterior fontanelle, Bowing of the long bones, Short stature... |
ORPHA:1798 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Posteriorly rotated ears, Micrognathia, Retrognathia, Low-set ears, Short nose, Thick nasal alae |
ORPHA:163961 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Coarse facial features, Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Shor... |
OMIM:619356 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Triangular face, Hearing impairment, Prominent nose |
OMIM:615510 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... |
ORPHA:2169 |
Melanocytic Nevus Syndrome, Congenital |
|
Round face, Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, ... |
OMIM:137550 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Abnormal metacarpal morphology, Osteoarthritis, Micrognathia, Sensorineural hearing impairment |
ORPHA:166100 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Sandal gap, Tapered finger, Bulbous nose, Low-s... |
OMIM:618430 |
Cadds |
|
Intrauterine growth retardation, Short nose, Micrognathia, Sensorineural hearing impairment |
ORPHA:369942 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Short stature, Craniosynostosis, Posteriorly rotated ears, Wide anterior fontan... |
OMIM:601853 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
Toluene Embryopathy |
|
Short stature, Tapered finger, Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Lo... |
ORPHA:1920 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Dis... |
OMIM:210600 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Bulbous nose, Protruding ... |
ORPHA:261144 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Micrognathia, Aplasia of the semicircular canal... |
ORPHA:648 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, Small han... |
ORPHA:3121 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... |
OMIM:617156 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... |
OMIM:210720 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... |
ORPHA:2031 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Genu... |
ORPHA:93360 |
Warsaw Breakage Syndrome |
|
Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, 2-3 toe... |
OMIM:613398 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,... |
OMIM:108720 |
Atelis Syndrome 2 |
|
Prominent nose, Micrognathia, Bulbous nose, Protruding ear, Low-set ears, Clinodactyly, Triangula... |
OMIM:620185 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... |
ORPHA:284169 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micrognathia, Osteoarthritis, Abnormal tibia morphology, Abnormal fe... |
ORPHA:666 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... |
OMIM:557000 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Abnormal facial shape, Short stature, EEG with multifocal slow activity |
ORPHA:289266 |
Mevalonic Aciduria |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Underdeveloped nasal alae, Low-set ea... |
OMIM:610377 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Optic atrophy, Hip dysplasia, Short nose, Long face |
OMIM:617183 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Craniosynostosis, Camptodac... |
ORPHA:83 |
Chromosome 3Q29 Duplication Syndrome |
|
Round face, Bulbous nose, Wide nasal bridge, Short nose, Long face |
OMIM:611936 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal a... |
OMIM:619293 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Wide nasal brid... |
OMIM:614887 |
Pancreatic And Cerebellar Agenesis |
|
Abnormal pinna morphology, Convex nasal ridge, Optic nerve hypoplasia, Severe intrauterine growth... |
OMIM:609069 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose, Uplifted earlobe |
OMIM:300143 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... |
OMIM:211350 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenomegaly, Hypoalbu... |
OMIM:251880 |
Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Limited elbow extension, Flat f... |
OMIM:619719 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Posteriorly rotated ears, Broad long bones, Bowing of the legs, Hypoplastic... |
ORPHA:1865 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Tapered ... |
OMIM:239300 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... |
ORPHA:2710 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Carious t... |
ORPHA:1786 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the earlobes, Abn... |
ORPHA:1702 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... |
OMIM:617049 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Overlapping toe, Tapered finger, Dental malocclusion, Narrow jaw, Low-set ... |
OMIM:618975 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive |
OMIM:601847 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Brachydactyly, Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia, Bulbous nose, Wi... |
OMIM:617061 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Multifocal epileptiform dischar... |
OMIM:618087 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Wide nose, Coarse facial features, Toe syndactyly, Camptodactyly of finger... |
ORPHA:261337 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Camptodactyly, Short nose |
OMIM:610015 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Small earlobe, Brachydactyly, Prominent nasal bridge, Underdeveloped nas... |
ORPHA:364577 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Moon facies, Prominent fingertip pads, Thickened helices, ... |
OMIM:619950 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Low-set ears... |
OMIM:219200 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Rocker bottom foot, Tapered fing... |
OMIM:601353 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Cong... |
ORPHA:14 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... |
OMIM:608940 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Anteverted nares, Short stature, Posteriorly rotated ears, Micr... |
OMIM:211750 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95716 |
Zellweger Syndrome |
|
Depressed nasal bridge, Short stature, Micrognathia, External ear malformation, Wide anterior fon... |
ORPHA:912 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... |
OMIM:166250 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of p... |
ORPHA:2409 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia, Delayed puberty |
ORPHA:2598 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Short stature, Sensorineural hearing impairment, Low-set ears, Recurrent ... |
OMIM:619575 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Postaxial hand polydactyly, ... |
OMIM:241800 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... |
OMIM:601812 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Anteverted nares, Camptodactyly of finger, Sensorineural h... |
ORPHA:261236 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
Fanconi Anemia, Complementation Group C |
|
Triangular face, Short stature, Absent thumb, Absent radius, Short thumb, Intrauterine growth ret... |
OMIM:227645 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Wide nose, Short stature, Micrognathia, Depressed nasal ridge,... |
ORPHA:1052 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Postnatal growth retardation, Epiph... |
OMIM:302960 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Congenital sensorineural... |
ORPHA:894 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Posteriorly rotated ears, Wide anterior fontanel, Epiphyseal stippling, Low-set ears, Flat face |
OMIM:614872 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Persistent open anterior fontanelle, Arachnodactyly, Protruding ear, Camptodactyly, Short nose, A... |
OMIM:615539 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Short nose, Depressed nasal ridge, Low-set ears |
OMIM:613885 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Posteriorly ro... |
OMIM:616835 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bulbous nose, Hip dislocation, Wide nasal bridge, Retrognathia, Protruding ear, Hip dysplasia, Na... |
OMIM:617403 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Growth delay, Epiphyseal stippling, Abnormal epiphysis morphology, Abn... |
ORPHA:177 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Triangular face, Brachydactyly |
OMIM:614526 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Long nose, Triangular face |
ORPHA:85327 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Short stature, Sandal gap, Prominent nose, Postnatal growth retardation, M... |
OMIM:156200 |
Multiple Sulfatase Deficiency |
|
Coarse facial features, Anteverted nares, Short stature, Broad hallux, Broad thumb, Flat face, He... |
OMIM:272200 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, ... |
OMIM:610759 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears,... |
OMIM:258480 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Pansynostosis, Broad thumb, Duplication... |
OMIM:180750 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Clin... |
OMIM:608747 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micrognathia, Dentinogenesis im... |
OMIM:613848 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Short stature, Craniosynostosis, Posteriorly rot... |
ORPHA:1272 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Anteverted nares, Prominent nasal bridge, Short stature, Broad nasal tip, Posteriorly rotated ear... |
OMIM:617330 |
Fg Syndrome 5 |
|
Metopic synostosis, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge,... |
OMIM:235510 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Branchiootic Syndrome |
|
Facial palsy, Facial asymmetry, Micrognathia, Sensorineural hearing impairment, Abnormality of th... |
ORPHA:52429 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Hip dysplasia, Delaye... |
ORPHA:496790 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Narrow face, Anteverted nares, Short stature, Micrognathia, In... |
ORPHA:1915 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Prominent nose, Micrognathia, Protruding ear, Prominent fingertip pads, Cl... |
OMIM:612474 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Wide anterior fontanel, Sensor... |
OMIM:222448 |
Vici Syndrome |
|
Wide nose, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Sensorineural hear... |
OMIM:242840 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Geleophysic Dysplasia 1 |
|
Round face, Anteverted nares, Short stature, Camptodactyly of finger, Coxa valga, Hypoplasia of t... |
OMIM:231050 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Round face, Depressed nasal bridge, Anteverted nares, Prominent nasal brid... |
OMIM:300912 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Coarse facial features, Brachydactyly, Abnormal pinna morphol... |
OMIM:610253 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... |
OMIM:200600 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Posteriorly rotated ears, Prominent nasal bridge, Arachnodactyly, Low-set ... |
OMIM:617011 |
Alagille Syndrome 2 |
|
Long nose, Triangular face |
OMIM:610205 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Intrauterine growth retardation, Slender long bone, Triangular face |
ORPHA:96181 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Abnormal calci... |
OMIM:271665 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Round face, Severe short stature, Bowing of the long bones, Broad long bones, Micrognathia, Metap... |
OMIM:224400 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Overfolded helix, Low-set ears, Metopic synostosis, Broad face, Short nose |
OMIM:613735 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... |
OMIM:277900 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal pinna morphology, Broad nasal tip, Thickened cortex of long bones, Small hand, Retrognat... |
ORPHA:488434 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Opt... |
OMIM:614225 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Short stature, Postaxial hand polydactyly |
ORPHA:1389 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Triangular face, Anteverted nares, Short stature, Overlapping toe, Broad n... |
OMIM:617402 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Down Syndrome |
|
Depressed nasal bridge, Sandal gap, Aganglionic megacolon, Depressed nasal ridge, Clinodactyly of... |
ORPHA:870 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Depressed nasal bridge, Tarsal synostosis, Camptodactyly of finger, Hea... |
ORPHA:90652 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Prominent antit... |
OMIM:245600 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... |
ORPHA:447 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:614207 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Micrognathia, EEG abnormality,... |
ORPHA:314655 |
Malan Syndrome |
|
Mandibular prognathia, Narrow face, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Adva... |
OMIM:614753 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Short thumb, Wide ... |
ORPHA:401935 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Opsismodysplasia |
|
Severe short stature, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pu... |
ORPHA:2746 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Tremor, Hyperam... |
ORPHA:3008 |
Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Thickened ears, Hypsarrhythmia, Clinodactyly of the 4t... |
ORPHA:79134 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Depressed nasal bridge, Short stature, Spatulate thumbs, Elbo... |
OMIM:150250 |
Noonan Syndrome 1 |
|
Brachydactyly, Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing i... |
OMIM:163950 |
Woodhouse-Sakati Syndrome |
|
Prominent nasal bridge, Sensorineural hearing impairment, Protruding ear, Triangular face, Hearin... |
OMIM:241080 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Abnormal facial shape, Syndactyly, Anteverted nares, Short thumb, L... |
OMIM:619488 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials |
OMIM:617523 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short stature, Prominent nasal bridge, Proximal placement of thumb, Tapered... |
ORPHA:251071 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Short stature, Tapered finger, Broad nasal tip, Small hand, Short clavicle... |
ORPHA:401923 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Microretrognathia, Abnormal pinna morphology, Short stature, Multiple pterygia, Pterygium, Flat face |
OMIM:177980 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Optic nerve hypoplasia, Long fingers, Clino... |
ORPHA:357001 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology |
ORPHA:296 |
Cockayne Syndrome Type 1 |
|
Long face, Absent brainstem auditory responses, Mandibular prognathia, Delayed eruption of primar... |
ORPHA:90321 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari... |
OMIM:164200 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Depressed nasal bridge, Ante... |
ORPHA:50945 |
3C Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growth retardat... |
ORPHA:7 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... |
OMIM:118650 |
Wiedemann-Steiner Syndrome |
|
Round face, Rhizomelia, Short stature, Tapered finger, Postnatal growth retardation, Clinodactyly... |
ORPHA:319182 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Long nose, Clinodactyly of the 5th finger, Small earlobe, Anteverted nares, Short stature, Tapere... |
OMIM:619522 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert... |
OMIM:268310 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Postnatal growth retardation, Optic atrophy, Ankle clonus, Clinodactyly of the 5th ... |
OMIM:614222 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Multiple joint dislocation, Depressed nasal bridge, Anteverte... |
ORPHA:536467 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Anteverted nares, Aganglionic megacolon, Abnormality of the ear, Growth delay, Abn... |
ORPHA:3339 |
Chops Syndrome |
|
Round face, Coarse facial features, Anteverted nares, Short stature, Brachydactyly, Optic atrophy... |
OMIM:616368 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Short stature, Metatarsus adductus, Genu valgum, Low-set ears, Flat face |
ORPHA:3101 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Depressed nasal bridge, Narrow nasal ridge, Underdeveloped nasal alae, Postnatal g... |
OMIM:619127 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Rocker bottom foot, M... |
ORPHA:521426 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... |
OMIM:216400 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Short stature, Underdeveloped nasal alae, Sensorineural hearing impair... |
ORPHA:2315 |
Trigonocephaly 1 |
|
Metopic synostosis, Short nose, Wide nasal bridge, Craniosynostosis |
OMIM:190440 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short stature, Facial asymmetry, Micrognathia, Wide nasal bridge, Microtia, Int... |
ORPHA:2282 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... |
ORPHA:1642 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Long toe, Bowing of the long bones, Genu recurvatum, Short stature, Phalangeal... |
OMIM:130070 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Round face, Coarse facial features, Micrognathia, Long nose, Protruding e... |
ORPHA:52 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Graft Versus Host Disease |
|
Tachycardia, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia, Failure to thrive |
ORPHA:39812 |
3Mc Syndrome |
|
Abnormal pinna morphology, Craniosynostosis, Hearing impairment, Abnormal nasal morphology, Postn... |
ORPHA:293843 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Microretrognathia, A... |
ORPHA:59315 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short nose |
OMIM:618437 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morpho... |
ORPHA:1295 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... |
OMIM:613471 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Short tibi... |
ORPHA:2756 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Hip dislocation, Coxa vara, Flattened epiphysis, Neonatal short-trunk sho... |
OMIM:183900 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Short stature, Overlapping toe, Bulbous nose, Wide nasal bridge, Protruding ea... |
OMIM:618571 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Arachnodactyly, Prominent nasal bridge,... |
ORPHA:457359 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Femoral bowing, Choanal stenosis, Conductive hearing impairment, Abnormality of the... |
ORPHA:95699 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Rhizomelia, Depressed nasal bridge, Increased f... |
OMIM:258315 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate short stature, Lim... |
OMIM:602875 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Wide nasal bridg... |
OMIM:613603 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Tapere... |
OMIM:301040 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Coarse facial features, Depressed nasal bridge, Anteverted nares, Broa... |
ORPHA:1465 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Syndactyly, Triangular face, Depressed nasal bridge, Short stature, Cranio... |
OMIM:612289 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Conductive hearin... |
ORPHA:2753 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short stature, Short nose |
ORPHA:884 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... |
OMIM:269250 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Bainbridge-Ropers Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Short stature, Anteverted nares, Arachnodactyly, Abnormal thumb morpholog... |
ORPHA:2719 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Bowing of the long bones, Depressed... |
OMIM:259775 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Optic atrophy, ... |
ORPHA:2510 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge, Short stature |
ORPHA:2835 |
Toriello-Carey Syndrome |
|
Brachydactyly, Short stature, Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Pos... |
ORPHA:3338 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Long face, Underdeveloped nasal alae, Prominent nose, Micrognathia, Sensorineural hearing impairm... |
ORPHA:90024 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Overlapping toe, Micrognathia... |
OMIM:617822 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Abnormal facial sh... |
ORPHA:508533 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Protruding ear, Tibial bowing, Hypoplastic iliac wing, Small earlobe, Genu varum, Vert... |
ORPHA:93315 |
Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hype... |
ORPHA:567983 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short stature, Posteriorly rotated ears, Underdeveloped nasal alae, Bifid distal phalanx of the t... |
OMIM:618419 |
Peho Syndrome |
|
Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia |
OMIM:260565 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Micrognathia, Optic atrophy, Large earlobe, Short nose |
OMIM:615851 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Protruding ea... |
OMIM:303600 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postnatal growth retardati... |
OMIM:605627 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Retrognathia, Hypoplasia of teeth, Growth delay, Short nose, Mac... |
OMIM:234050 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Short stature, Anteverted nares, Delayed closure of the anterior font... |
ORPHA:357074 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia |
OMIM:208085 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Micrognathia, Bird-like facies, Hypoplasia of teeth, Growth delay, Short clav... |
OMIM:608612 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Optic atrophy, Slender long bone, Lo... |
OMIM:618590 |
Woodhouse-Sakati Syndrome |
|
Prominent nose, Protruding ear, Growth delay, Bilateral sensorineural hearing impairment, Delayed... |
ORPHA:3464 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Overlapping fingers, Short stature, Micrognathia, Sensorineural hearing impairment, Gr... |
OMIM:608779 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Depressed nasal bridge, Short stature, Anteverted nares, Sagittal craniosynostosis, ... |
OMIM:145420 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Small earlobe, Genu varum, Long toe, Depressed nasal bridge, Anteverted nares, Narr... |
OMIM:264090 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Multifocal epileptiform dischar... |
OMIM:615398 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasia of the distal ph... |
ORPHA:1234 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Depressed nasal bridge, Posteriorly rotated ears, Bowed humerus, W... |
OMIM:619479 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia,... |
OMIM:616894 |
Icf Syndrome |
|
Depressed nasal bridge, Short stature, Micrognathia, Low-set ears, Flat face |
ORPHA:2268 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdevelope... |
OMIM:616580 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, Abnormal tibia morpho... |
ORPHA:2879 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape... |
OMIM:200990 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Optic atrophy, Micrognathia |
OMIM:615042 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Posteriorly rotated ea... |
OMIM:608156 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Choanal stenosis... |
OMIM:269150 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Microtia, Short stature, Flat face |
ORPHA:370079 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Coarse facial features, Depressed nasal bridge, Short st... |
OMIM:115150 |
Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Growth delay, Low-set ears, Short nose |
OMIM:103050 |
Lathosterolosis |
|
Prominent metopic ridge, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial ... |
ORPHA:46059 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Round face, Anteverted nares, Camptodactyly... |
ORPHA:261318 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Disproportionate short-trunk short s... |
OMIM:608022 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, External ear malformation, Optic atrophy, Hypsarrhythmia, EEG a... |
ORPHA:2836 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Round face, Anteverted nares, Posteriorly rotated ears, Rocker bottom foot, Mi... |
OMIM:214100 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis |
OMIM:608885 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Tachycardia, Opisthotonus, Hypertension, Anemia |
OMIM:184850 |
3Q29 Microdeletion Syndrome |
|
Narrow face, Prominent nasal bridge, Facial asymmetry, Tapered finger, Low-set ears, Clinodactyly... |
ORPHA:65286 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Long face, Depressed nasal bridge, Ant... |
OMIM:613458 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, Cli... |
OMIM:618332 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Broad hallux, Overlap... |
ORPHA:401973 |
Caroli Syndrome |
|
Portal hypertension, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Hematemesis, Mel... |
ORPHA:480520 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Rhizomelia, Anteverted nares, Flat ... |
OMIM:271510 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Depressed nasal bridge, Proximal placement of thumb, Antev... |
OMIM:217980 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat... |
OMIM:114290 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Coarse facial features, Depressed nasal bridge, Short s... |
ORPHA:576 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Narrow face, Congenital hip dislocation, Depressed nasal bridge, Short stature... |
OMIM:244450 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly |
ORPHA:210548 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:613404 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Short stature, Posteriorly rota... |
OMIM:618454 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... |
OMIM:263750 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Round face, Flat face |
ORPHA:2536 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short... |
ORPHA:261494 |
Poikiloderma With Neutropenia |
|
Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Gr... |
OMIM:604173 |
Cystic Echinococcosis |
|
Weight loss, Eosinophilia, Hyperbilirubinemia, Splenic cyst |
ORPHA:400 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Wide nose, Sensorineural hearing impairment, Optic atrophy, ... |
ORPHA:79330 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Wide nose, Hyperextensibility of the finger joints, Anteverted nares, Short sta... |
OMIM:213980 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Severe short stature, Depressed nasal bridge, Abnormality of t... |
ORPHA:35107 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Coarse facial features, Depressed nasal bridge, Short stature,... |
ORPHA:1340 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Splenomegaly, Spider hemangioma, Increased total bilirubin |
ORPHA:2137 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Short stature, Anteverted nares, ... |
OMIM:146510 |
Yellow Fever |
|
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
ORPHA:99829 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr... |
OMIM:180700 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Short s... |
OMIM:300990 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Depressed nasal bridge, Anteverted nares, Severe postnatal growth retardation, Con... |
OMIM:613038 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Small for gestational age, Conjugated hyperbilirub... |
OMIM:614866 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Bradycardia, Hypercholesterolemia, Failure to thrive, N... |
ORPHA:90674 |
Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Postnatal growth retardation, Hip dislocation, Protruding ear, Low-set ears, Wor... |
ORPHA:90348 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Flat face, Choanal atresia, Cutaneous syndactyly |
OMIM:119580 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix |
OMIM:245650 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... |
ORPHA:1791 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Facial pals... |
OMIM:230740 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of... |
ORPHA:2136 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Microretrognathia, Recurrent joint dislocation, Craniosynostos... |
ORPHA:2953 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Depressed... |
ORPHA:3107 |
Slc39A8-Cdg |
|
Short stature, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Hypsarrhyth... |
ORPHA:468699 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Synostosis of carpal bones, L... |
ORPHA:1507 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, EEG with burs... |
OMIM:619124 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Optic disc coloboma, Choanal stenosis, Low-set ears, Short no... |
ORPHA:1790 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal b... |
OMIM:247200 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Short stature, Pr... |
ORPHA:1449 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Low... |
OMIM:118450 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment |
OMIM:614863 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Coarse facial features, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micro... |
OMIM:614080 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Wide nose, Coarse facial features, Arachnodactyly, Thin metatarsal cortices, Abnormal columella m... |
ORPHA:2463 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose |
OMIM:614105 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Prominent fingertip pads, 2-3 toe cutaneous syndactyly, Flat face, Mandibular prognathia |
OMIM:615828 |
Trisomy 8P |
|
Short fourth metatarsal, Clinodactyly of the 5th finger, Conductive hearing impairment, Depressed... |
ORPHA:264450 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal fibula morphology... |
ORPHA:1812 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Short stature, Anteverted nares, Posteriorly rotated ears, Pos... |
OMIM:257300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Round face, Depressed nasal bridge, Bulbous nose, Low-set ears, Flat face |
OMIM:619103 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Long toe, Anteverted nares, Short stature, 2-3 toe syndactyly, Low-set ea... |
ORPHA:3455 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Long fingers, Low-set ears, Overf... |
OMIM:156610 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Opisthotonus |
ORPHA:95232 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tapered toe, Shoulder flexion contracture, Micrognathia, Elbow flexion contractu... |
OMIM:620369 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Distal Deletion 12Q |
|
Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5th... |
ORPHA:96149 |
Fumarase Deficiency |
|
Failure to thrive, Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Micrognathia, EEG with burst suppression, Optic atrophy, Dental malocclusion, Abnormal facial sha... |
ORPHA:329178 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Sho... |
OMIM:616638 |
Stickler Syndrome |
|
Joint dislocation, Short stature, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, ... |
ORPHA:828 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Caroli Disease |
|
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abno... |
ORPHA:53035 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Underfolded helix, ... |
OMIM:268400 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Neonatal short-limb short stature, Flat face |
OMIM:600972 |
Blepharocheilodontic Syndrome 2 |
|
Flat face, Cutaneous syndactyly, Facial asymmetry |
OMIM:617681 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Posteriorly rotated ears, Micrognathia, C... |
OMIM:602398 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Retrognathia, Protruding ear, Growth delay, Microtia, Shor... |
OMIM:301030 |
Isolated Biliary Atresia |
|
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu... |
ORPHA:30391 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Round face, Anteverted nares, Short ... |
ORPHA:444077 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Coarse facial features, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micr... |
OMIM:617527 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Ab... |
OMIM:134780 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac... |
OMIM:271640 |
Microlissencephaly-Micromelia Syndrome |
|
EEG abnormality, Short nose, Coarse facial features, Adducted thumb |
ORPHA:50810 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Depressed nasal bridge, Short stature, Uplifted earlobe, Posteriorly rotated ears, Tapered finger... |
OMIM:616734 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anteverted nares, Short stature, Aganglionic megacolon, Sensorineural hearing impairment, Depress... |
ORPHA:847 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Arachnodactyly, Sandal gap, Long nose, Carious teeth, Camptodactyly, Clinodactyly ... |
OMIM:617602 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose |
OMIM:617988 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Fem... |
ORPHA:321 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Choanal stenosis, Wide anterior fontanel, Hypsarrhythmia, Abnormal c... |
ORPHA:798 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Coarse facial features, Depressed nasal bridge, Advanced eruption of teeth, Short nose, Broad col... |
OMIM:617865 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Growth delay, Short nose, Anteverted nares, Hearing impairment |
ORPHA:96147 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Depressed nasal br... |
ORPHA:97360 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Coarse facial features, Depre... |
ORPHA:309282 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Anteverted nares, Wide nasal bridge, Growth delay, Low-set ears, Intrauterine ... |
OMIM:614052 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Narrow nasal ridge, Low-set ears, Short nose, Tinnitus, Triangular face |
OMIM:606721 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear... |
ORPHA:2306 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Hip dislocation,... |
OMIM:615349 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Hallux valgus, Prominent nasal bridge, Prominent nose, Synostosis involving ... |
ORPHA:466791 |
Mirizzi Syndrome |
|
Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... |
ORPHA:186 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Clubbing, Joint swelling, Promin... |
ORPHA:96123 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micrognathia, S... |
OMIM:618460 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Brachydactyly, Anteverted nares, Short stature, Overlapping toe, Broad nasal... |
ORPHA:177907 |
Senior-Boichis Syndrome |
|
Portal hypertension, Hepatosplenomegaly, Hypertension, Anemia, Increased total bilirubin |
ORPHA:84081 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Ogden Syndrome |
|
Torticollis, Premature atrial contractions, Ventricular tachycardia, Premature ventricular contra... |
OMIM:300855 |
Hyperekplexia 3 |
|
Exaggerated startle response, Syncope |
OMIM:614618 |
Alg9-Cdg |
|
Low-set, posteriorly rotated ears, Microretrognathia, Prominent metopic ridge, Hitchhiker thumb, ... |
ORPHA:79328 |
Renal And Mullerian Duct Hypoplasia |
|
Severe postnatal growth retardation, Short nose, Micrognathia |
OMIM:266810 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short... |
ORPHA:2308 |
Alkaptonuria |
|
Joint dislocation, Abnormality of the nose, Cartilage destruction, Hearing abnormality, Osteoarth... |
ORPHA:56 |
Deeah Syndrome |
|
Overlapping fingers, Short stature, Hearing impairment, EEG abnormality, Low-set ears, Prominent ... |
OMIM:619004 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Facial palsy, Micrognathia, Ulnar deviation of finger, Growth de... |
ORPHA:1358 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Pterygium, Short phalanx of fing... |
OMIM:263650 |
Helsmoortel-Van Der Aa Syndrome |
|
Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Advanced eruption of tee... |
OMIM:615873 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Micrognathia, Wide nasal bri... |
ORPHA:2062 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly rotated ears, Short stat... |
ORPHA:800 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Growth delay, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Aplasia of the... |
ORPHA:476126 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Isometric tremor, Failure to thrive, Head titubation, Congesti... |
OMIM:619475 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia,... |
OMIM:229600 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Growth delay, Short n... |
OMIM:615803 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Abnormal pinna morphology, Absent phalangeal crease, Retrognathia, Joint contracture of the hand,... |
OMIM:611929 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Retrognathia, Hip dysplasia,... |
OMIM:619426 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... |
ORPHA:3342 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lym... |
OMIM:127550 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Abnormal pinna morphology, Posteriorly rotated ears, Bowing of... |
OMIM:269860 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hip dislocation, Wide nasal bridge, Intrauterine growth retardation, Short nose, R... |
OMIM:618005 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th... |
ORPHA:199 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short stature, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Microgna... |
ORPHA:90154 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Increased femo... |
OMIM:619005 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Bartter Syndrome Type 4 |
|
Triangular face, Bilateral sensorineural hearing impairment, Protruding ear |
ORPHA:89938 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Short stature, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae,... |
ORPHA:268261 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Mandibular prognath... |
ORPHA:1299 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Small for gestational age, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unco... |
OMIM:613658 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Short nose, Depressed nasal bridge |
OMIM:605309 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short stature, Short nose |
ORPHA:1394 |
Trichothiodystrophy 1, Photosensitive |
|
Short stature, Retrognathia, Protruding ear, Short nose, Macrotia |
OMIM:601675 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Flat face |
OMIM:618154 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short nose, Prominent nasal bridge, Short stature, Wide nasal bridge |
OMIM:619179 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Coarse facial features, Brachydactyly, Anteverted nares, Asymmetric crying fac... |
ORPHA:280633 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Short stature, Anteverted nares, Micrognathia, Short nose, Macrotia, Broad thumb |
ORPHA:109 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short stature, Intraut... |
ORPHA:280200 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Short stature, Anteverted nares, Sagittal craniosynostosis, Thickened h... |
OMIM:609942 |
Hardikar Syndrome |
|
Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Hepatosplenomegaly, Hypertension, ... |
OMIM:301068 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Macrotia, Triangular face |
OMIM:608594 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Microretrognathia, Posteriorly rotated ears, Arachnodactyly, Facial asymmetry,... |
OMIM:601776 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Acrocephalopolydactylous Dysplasia |
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Abnormal pinna morphology, Craniosynostosis, Postaxial hand polydactyly, Low-set ears, Short nose |
OMIM:200995 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
Specc1L-Related Hypertelorism Syndrome |
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Finger syndactyly, Round face, Prominent nasal bridge, Short toe, Wide nasal bridge, Abnormal hel... |
ORPHA:1519 |
Monosomy 9P |
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Depressed nasal bridge, Anteverted nares, Choanal atresia, Proximal placement of thumb, Abnormali... |
ORPHA:261112 |
Jacobsen Syndrome |
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Depressed nasal bridge, Anteverted nares, Micrognathia, Optic atrophy, Low-set ears, Clinodactyly... |
OMIM:147791 |
Prolidase Deficiency |
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Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia |
OMIM:170100 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Triangular face, 2-3 toe syndactyly |
OMIM:616539 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Broad thumb, Flat face, Micrognathia |
ORPHA:2001 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Peters Plus Syndrome |
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Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairment, Spina bifida occulta... |
ORPHA:709 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Mandibular prognathia, Macrotia, Triangular face |
OMIM:269700 |
X-Linked Intellectual Disability, Nascimento Type |
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Pulmonary arterial hypertension, Mitral stenosis, Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly |
ORPHA:309155 |
Bartter Syndrome, Type 2, Antenatal |
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Macrotia, Short stature, Triangular face, Chondrocalcinosis |
OMIM:241200 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Zttk Syndrome |
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Depressed nasal bridge, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Small hand, W... |
OMIM:617140 |
Simpson-Golabi-Behmel Syndrome |
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Low-set, posteriorly rotated ears, Vertebral fusion, Coarse facial features, Congenital hip dislo... |
ORPHA:373 |
Aspartylglucosaminuria |
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Large face, Mandibular prognathia, Coarse facial features, Abnormal morphology of ulna, Carious t... |
ORPHA:93 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Adult-Onset Still Disease |
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Cartilage destruction, Recurrent pharyngitis, Joint swelling, Arthritis |
ORPHA:829 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
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Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Intrauterine growth retardatio... |
ORPHA:86822 |
Lymphangiectasia, Pulmonary, Congenital |
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Mild postnatal growth retardation, Flat face, Depressed nasal bridge, Wide nasal bridge |
OMIM:265300 |
Cranioectodermal Dysplasia 2 |
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Splenomegaly, Hypertension, Polysplenia, Hyperbilirubinemia |
OMIM:613610 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Aplasia of the nasal bone, Micrognathia, Protruding ear, Low-set ears, Short nose, Ab... |
OMIM:618820 |
Monosomy 9Q22.3 |
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Delayed eruption of teeth, Thickened ears, Polydactyly, Low-set ears, Metopic synostosis, Short nose |
ORPHA:77301 |
Down Syndrome |
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Short palm, Short stature, Sandal gap, Aganglionic megacolon, Short middle phalanx of the 5th fin... |
OMIM:190685 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Short stature, Broad n... |
OMIM:617157 |
Ctcf-Related Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Broad hallux phalanx, Anteverted nares, Sandal gap, Craniosyno... |
ORPHA:363611 |
Moderate Hemophilia A |
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Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Joint hemorrhage |
ORPHA:169805 |
C Syndrome |
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Joint dislocation, Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Sho... |
ORPHA:1308 |
1P21.3 Microdeletion Syndrome |
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Short nose, Micrognathia, Long ear, Broad nasal tip |
ORPHA:293948 |
Mucopolysaccharidosis Type 7 |
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Coarse facial features, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone morphology, ... |
ORPHA:584 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia, Pulmonary insufficiency |
OMIM:208500 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response, Bradycardia |
OMIM:608800 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Okamoto Syndrome |
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Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wid... |
ORPHA:2729 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Equinus calcaneus, EEG with focal sharp waves, 2-3 toe syndactyly, EEG abnormality, EEG with seri... |
ORPHA:522077 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Pallister-Hall Syndrome |
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Depressed nasal ridge, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Microretrognathi... |
ORPHA:672 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Depressed nasal bridge, Arachnodactyly, Proportionate short stature, Sagittal craniosynostosis, F... |
ORPHA:500150 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Tay-Sachs Disease |
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Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... |
ORPHA:845 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Depressed n... |
OMIM:312870 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... |
OMIM:253800 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Long toe, Posteriorly rotated ears, Depressed nasal bridge, Short stature, Tibial torsion, Postna... |
OMIM:613355 |
Geleophysic Dysplasia 2 |
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Short stature, Cone-shaped epiphysis, Short foot, Short palm, Short nose |
OMIM:614185 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Mandibular prognathia, Narrow face, Posteriorly rotated ears, Sandal gap, Optic nerve hypoplasia,... |
OMIM:620330 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hypertension, Failure to thrive, Hyperbilirubinemia |
OMIM:210710 |
Asparagine Synthetase Deficiency |
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Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia |
OMIM:615574 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Neurooculorenal Syndrome |
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Conjugated hyperbilirubinemia, Decreased circulating cortisol level |
OMIM:620305 |
Gm1-Gangliosidosis, Type Ii |
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Coarse facial features, Optic atrophy, Flat face, Coxa valga |
OMIM:230600 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Sandhoff Disease |
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Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly |
OMIM:268800 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Pulmonary arterial hypertension, Aplasia of the thymus, Unconjugated hyperbilirubinemia |
OMIM:620186 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Failure to thrive |
OMIM:617864 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Growth delay, Short nose, Long face |
OMIM:252160 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Growth delay, Short nose, Long face |
OMIM:252150 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Pro... |
OMIM:619503 |
Williams Syndrome |
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Narrow face, Micrognathia, Protruding ear, Chronic otitis media, Clinodactyly of the 5th finger, ... |
ORPHA:904 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy, Dystonia |
ORPHA:79255 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Optic nerve hypoplasia, Optic atrophy, Genu valgum, Intrauterine growth retardatio... |
OMIM:619321 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Congenital Disorder Of Glycosylation, Type Iim |
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Hypertension, Neonatal hyperbilirubinemia |
OMIM:300896 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Short nose, Optic atrophy, Coarse facial features |
ORPHA:505248 |
Williams-Beuren Syndrome |
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Hallux valgus, Depressed nasal bridge, Short stature, Anteverted nares, Broad nasal tip, Down-slo... |
OMIM:194050 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Micrognathia, Camptodactyly of 2nd-5th fingers, Short palm, Clinodact... |
OMIM:601803 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Fibrochondrogenesis |
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Round face, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fing... |
ORPHA:2021 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Frontofacionasal Dysplasia |
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Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... |
OMIM:229400 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
Johanson-Blizzard Syndrome |
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Small for gestational age, Portal hypertension, Increased VLDL cholesterol concentration, Conjuga... |
OMIM:243800 |
Reactive Arthritis |
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Cartilage destruction, Arthritis, Joint swelling |
ORPHA:29207 |
Penile Agenesis |
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Posteriorly rotated ears, Short nose, Depressed nasal bridge |
ORPHA:49 |
Vascular Ehlers-Danlos Syndrome |
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Narrow nasal bridge, Joint dislocation, Congenital hip dislocation, Short stature, Carious teeth,... |
ORPHA:286 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Decreased serum iron, Pulmonic stenosis, Dystonia, Anemia |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |