Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Short Stature, Brussels Type |
|
Short stature, Abnormal facial shape, Calcification of cartilage, Microretrognathia, Triangular f... |
ORPHA:2867 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Flat face, Aplasia/Hypoplasia involving the nose, Sensorineural hearing ... |
ORPHA:1529 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Wide nasal bridge, Micrognathia, Limited elbow extension, Knee dislocation,... |
OMIM:614078 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, EEG abnormality, Wide nasal bridge, Micrognathia, Overlapping toe, Prominent meto... |
OMIM:613792 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Wide nasal bridge, Short stature, Micrognathia, Triangular face, Brachydactyly, Low-set ears, Sho... |
OMIM:612626 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type |
|
Prominent nose, Coarse facial features, Triangular face, Bulbous nose, Thick nasal alae |
ORPHA:293707 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Macrotia, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Triangular face... |
OMIM:615419 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... |
OMIM:616689 |
Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of... |
ORPHA:2496 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating... |
OMIM:613673 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Sensorineural hearing impairment, Prominent nose, Wide nasal bridge, Microtia, Short... |
OMIM:301022 |
Alazami Syndrome |
|
Wide nose, Wide nasal bridge, Triangular face, Severe short stature, Depressed nasal bridge, Low-... |
OMIM:615071 |
Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, Wide nasal bridge, Shor... |
OMIM:601680 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Kbg Syndrome |
|
Underdeveloped nasal alae, Bilateral conductive hearing impairment, Macrotia, Vertebral fusion, E... |
ORPHA:2332 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Tremor, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Abnormality of the oute... |
ORPHA:217340 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, Micrognathia, Clinodactyly of the 5th finger, Round face, Triangular fac... |
ORPHA:1716 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short stature, Micrognathia, Short nose, Anteverted nares, Low-set, posteriorly rotated ears |
ORPHA:2015 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Delayed closure of the anterior fontanelle, Short stature, Clinodactyly of the 5th f... |
ORPHA:231140 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbiliru... |
OMIM:620010 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Congenital Myopathy 19 |
|
Depressed nasal ridge, Micrognathia, Triangular face, Low-set ears, Hearing impairment, Posterior... |
OMIM:618578 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
17P11.2 Microduplication Syndrome |
|
EEG abnormality, Short stature, Micrognathia, Triangular face, Low-set, posteriorly rotated ears,... |
ORPHA:1713 |
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 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Limited elbow movement, Abnormal facial shape, Triangular face, Limitation of knee ... |
ORPHA:319171 |
3-Hydroxyisobutyric Aciduria |
|
Triangular face, Micrognathia, Intrauterine growth retardation, Microtia |
ORPHA:939 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micrognathia, T... |
OMIM:618342 |
Adenylosuccinate Lyase Deficiency |
|
Abnormal facial shape, Short nose, Anteverted nares, Prominent metopic ridge, Low-set ears |
ORPHA:46 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Macrotia, Convex nasal ridge, Mandibular prognathia, Facial asymmetry, Triangular fac... |
ORPHA:1110 |
Short Stature, Dauber-Argente Type |
|
Short stature, Delayed eruption of teeth, Triangular face, Decreased fibular diameter, Long toe, ... |
OMIM:619489 |
Legg-Calvé-Perthes Disease |
|
Short stature, Cartilage destruction, Joint dislocation |
ORPHA:2380 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Flat face, Conductive hearing impairment, Hypoplastic ischia, Short nose, Depressed ... |
OMIM:616910 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Abnormal facial shape, Clinodactyly, Short nose, Cubitus valgus, Sh... |
OMIM:300577 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Flat face, Wide nasal bridge, Short stature, Micrognathia, Clinodactyly, Camptodactyly, Intrauter... |
OMIM:613604 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
EEG abnormality, Short stature, Abnormal facial shape, Triangular face, Long face, Long nose, Pro... |
ORPHA:85329 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Conductive hearing impairment, Coxa valga, Flat face, Short... |
OMIM:132450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Acrocraniofacial Dysostosis |
|
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsa... |
OMIM:201050 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Clinodactyly, Triangular face, Severe short stature, Intrauteri... |
OMIM:617352 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macrotia, Mandibular prognathia, EEG abnormality, Wide nasal bridge, Short stature, Multifocal ep... |
ORPHA:369891 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face, Severe intraute... |
ORPHA:231144 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... |
OMIM:224120 |
Stickler Syndrome, Type Iv |
|
Genu valgum, Flat face, Sensorineural hearing impairment, Short stature, Flat capital femoral epi... |
OMIM:614134 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short nose, Large earlobe, Short columella, Depressed nasal bridge, Short di... |
OMIM:155050 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short stature, Epiphyseal stippling, Short nose, Depressed nasal bridge, Anosmia, Short distal ph... |
OMIM:302950 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Macrotia, Short stature, Abnormal facial shape, Short nose, Depressed nasal bridge, Growth delay |
ORPHA:438178 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Microg... |
OMIM:259420 |
Codas Syndrome |
|
Flat face, Sensorineural hearing impairment, Short metacarpal, Crumpled ear, Delayed eruption of ... |
ORPHA:1458 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Nicolaides-Baraitser Syndrome |
|
Joint dislocation, Abnormal finger morphology, Abnormal metacarpal morphology, Clubbing of toes, ... |
ORPHA:3051 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Bulbous nose, Round face, Short ... |
ORPHA:969 |
Three M Syndrome 3 |
|
Short stature, Hip dysplasia, Slender long bone, Prominent nasal tip, Clinodactyly of the 5th fin... |
OMIM:614205 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Morphological abnormality of th... |
ORPHA:96148 |
Chromosome 10Q26 Deletion Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, 2-3 toe cutaneous syndactyly... |
OMIM:609625 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Round ear, Anteverted nares, Short nose |
ORPHA:1450 |
Leukodystrophy, Hypomyelinating, 10 |
|
Triangular face, Short nose, Hypoplasia of the antihelix, Anteverted nares, Arachnodactyly, Low-s... |
OMIM:616420 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Micrognathia, Fac... |
ORPHA:1131 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Macrotia, Avascular necrosis of the capital femoral epiphysis, Short met... |
ORPHA:77258 |
Developmental And Epileptic Encephalopathy 73 |
|
Hip dysplasia, Narrow nasal bridge, Sensorineural hearing impairment, Short nose |
OMIM:618379 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, Enlarged naris, Hip contracture, Small hand, EEG abnormality, Wide nasa... |
ORPHA:371364 |
Three M Syndrome 1 |
|
Mandibular prognathia, Short 5th finger, Joint dislocation, Short stature, Slender long bone, Cli... |
OMIM:273750 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Flat face, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Joint dis... |
ORPHA:1240 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Wide nasal bridge, Short stature, Abnormalit... |
ORPHA:1825 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Triangular face, Adducted thumb, Wormian bones, ... |
OMIM:616603 |
Three M Syndrome 2 |
|
Dental malocclusion, Short 5th finger, Short stature, Delayed eruption of teeth, Slender long bon... |
OMIM:612921 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Tapered finger, Prominent nose, Triangular face, Anteverted nares, Low-set ears,... |
OMIM:616801 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Mandibular prognathia, EEG abnormality, Short stature, Micrognathia, Promine... |
OMIM:610883 |
Silver-Russell Syndrome 5 |
|
Intrauterine growth retardation, Birth length less than 3rd percentile, Triangular face |
OMIM:618908 |
Al Kaissi Syndrome |
|
Small hand, Wide nasal bridge, Short stature, Clinodactyly, Triangular face, Depressed nasal brid... |
OMIM:617694 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Congenital finger flexion contractures, Macrotia, Optic atrophy, Triangular face, Arachnodactyly,... |
ORPHA:1154 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hyp... |
OMIM:605814 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... |
ORPHA:158057 |
Silver-Russell Syndrome 3 |
|
Retrognathia, Small hand, Short stature, Clinodactyly of the 5th finger, Triangular face, Antecub... |
OMIM:616489 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short stature, Round face, Short nose, Anteverted nares |
ORPHA:1355 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Short stature, Camptodactyly, Triangular face, Adducted thumb, Overlapping fingers |
OMIM:618436 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Short stature, Short nose, Depressed nasal bridge, Anteverted nares, Low-set ears |
OMIM:616430 |
20Q11.2 Microduplication Syndrome |
|
Retrognathia, Flat face, Short foot, Wide nasal bridge, Microtia, Coarse facial features, Thicken... |
ORPHA:363659 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Abnormal optic disc morphology, Round face, Tibial deviation of the ... |
ORPHA:363417 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Tapered finger, Prominent nose, Microtia, Micrognathia, Clinodactyly of the 5th finger, Triangula... |
OMIM:618829 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Short stature, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face, Narrow nose, Pr... |
ORPHA:231137 |
3M Syndrome |
|
Hypoplastic pubic bone, Abnormality of the elbow, Short stature, Delayed eruption of teeth, Slend... |
ORPHA:2616 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Genu valgum, Flat face, Mandibular prognathia, Coxa vara, Short metacarpal, Depressed ... |
ORPHA:2831 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Microtia, Short long bone, Short nose, Brachydactyly, Genu recurvatum |
ORPHA:221054 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Patellar aplasia, Birth length less than 3rd percentile, Microtia, Short stature, ... |
OMIM:613805 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Slender long bone, Micrognathia, Abno... |
ORPHA:2774 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Silver-Russell Syndrome 2 |
|
2-3 toe syndactyly, Delayed closure of the anterior fontanelle, Short stature, Micrognathia, Clin... |
OMIM:618905 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Autosomal Recessive Stickler Syndrome |
|
Flat face, Genu valgum, Sensorineural hearing impairment, Short stature, Micrognathia, Epiphyseal... |
ORPHA:250984 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Dystonia, Hyperprolinemia, Bradycardi... |
OMIM:616299 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Round ear, Rhizomelia, Short stature, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger,... |
OMIM:614114 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Wide nasal bridge, Short toe, Genu valgum, Metaphyseal irregularity, Bro... |
OMIM:619636 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Macrotia, Abnormal facial shape, Hip dislocation, Protruding ear, Increased laxity of ankles, Tri... |
ORPHA:481152 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Metatarsal osteolysis, Micrognathia, Triangular face, Metacarpal osteolysis, Hypo... |
OMIM:166300 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Short toe, Flat face, Short nose, Narrow ... |
ORPHA:1327 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Hearing impairment, Pos... |
ORPHA:439822 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Anterior radial head dislocation, Hyperextensibility of the finger joi... |
OMIM:610967 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, ... |
OMIM:614856 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
Mulibrey Nanism |
|
Wide nose, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Short stature, Triangular f... |
OMIM:253250 |
Partington Syndrome |
|
Camptodactyly, EEG abnormality, Triangular face |
OMIM:309510 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Sensorineural hearing impairment, Short stature, Delayed eruption of t... |
ORPHA:71267 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Optic atrophy, Short stature, Micrognathia, Short nose, Growth delay, In... |
ORPHA:1495 |
Silver-Russell Syndrome 4 |
|
Birth length less than 3rd percentile, Triangular face |
OMIM:618907 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Wide nasal bridge, Underfolded helix, Large earlobe, Overlapping toe, Triangular ... |
OMIM:618316 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Short stature, Triangular face |
ORPHA:29 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor |
ORPHA:713 |
Short Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Macrotia, Sensorineural hearing impairment, Wide ... |
OMIM:269880 |
Xq12-Q13.3 Duplication Syndrome |
|
Cleft earlobe, 2-3 toe syndactyly, Short stature, Cutaneous finger syndactyly, Hypsarrhythmia, Tr... |
ORPHA:314389 |
Legius Syndrome |
|
Low-set ears, Micrognathia, Posteriorly rotated ears, Triangular face |
OMIM:611431 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Depressed nasal bridge, Triangular face |
OMIM:617532 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ... |
OMIM:311300 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Short stature, Micrognathia, Short nose, Depressed nasal bridge, Low-set, pos... |
ORPHA:1695 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Flat face, Microtia, Abnormal facial shape, Camptodactyly, Syndactyly, Depressed nasal bridge, Gr... |
OMIM:616006 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Microtia, Epiphyseal stippling, Intrauterine growth retardation, Short nose, Depre... |
ORPHA:1914 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Flat face, Sensorineural hearing impairment, Rhizomelia, Micrognathia, Epiphyseal stippling, Seve... |
OMIM:215100 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Abnormal facial shape, Triangular face, Long face, Anteverted ears, Postaxial polydactyly |
ORPHA:544254 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macrotia, Clinodactyly, Round face, Triangular face, Depressed nasal bridge, Low-set ears, Bulbou... |
OMIM:616789 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Sensorineural hearing impairment, Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridg... |
OMIM:184840 |
Arthrogryposis, Distal, Type 5 |
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Absent phalangeal crease, Congenital finger flexion contractures, Limited wrist extension, Short ... |
OMIM:108145 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Posteriorly rotated ears, Short metatarsal, Prominent nose, Triangular face, Short foot, Mandibul... |
OMIM:614813 |
Alazami Syndrome |
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Wide nose, Slender long bone, Triangular face, Low-set ears, Postnatal growth retardation |
ORPHA:319671 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
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Intrauterine growth retardation, Clinodactyly of the 5th finger, Facial asymmetry, Triangular face |
ORPHA:231147 |
Chopra-Amiel-Gordon Syndrome |
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EEG abnormality, Short stature, Thick nasal alae, Triangular face, Flared nostrils, Postnatal gro... |
OMIM:619504 |
Isolated Polycystic Liver Disease |
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Increased total bilirubin, Gastrointestinal hemorrhage |
ORPHA:2924 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
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Short stature, Triangular face, Brachydactyly, Hearing impairment, Abnormal femoral epiphysis mor... |
ORPHA:3218 |
Pierpont Syndrome |
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Wide nose, Short toe, Broad face, Short foot, Short stature, Short finger, Short nose, Large fles... |
OMIM:602342 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Flat face, Sensorineural hearing impairment, Coxa valga, Short stature, Abnormal auditory evoked ... |
OMIM:109120 |
Stickler Syndrome Type 1 |
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Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Abnormal epiphysis morph... |
ORPHA:90653 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Flat face, Short stature, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic ... |
ORPHA:2725 |
Usher Syndrome, Type Ig |
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Hypoplasia of the nasal bone, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:606943 |
Autosomal Recessive Omodysplasia |
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Rhizomelia, Short stature, Micrognathia, Abnormal morphology of the radius, Pterygium, Short nose... |
ORPHA:93329 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Larsen-Like Syndrome |
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Dental malocclusion, Flat face, Conductive hearing impairment, Joint dislocation, Wide anterior f... |
OMIM:608545 |
Keutel Syndrome |
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Underdeveloped nasal alae, Wide nose, Optic atrophy, Short stature, Calcification of cartilage, R... |
ORPHA:85202 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Increased total bilirubin, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Sp... |
ORPHA:90037 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Short palm, T... |
OMIM:170390 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Short nose, Epiphyseal dysplasia, Depressed nasal bridge, Low-set ears, Metaphyseal dysplasia, Cr... |
OMIM:614732 |
Insulin-Like Growth Factor I, Resistance To |
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Retrognathia, Small hand, Wide nasal bridge, Short stature, Abnormal facial shape, Micrognathia, ... |
OMIM:270450 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Dental malocclusion, Vertebral fusion, Microtia, Camptodactyly, Clinodactyly of the 5th finger, D... |
OMIM:227330 |
Harderoporphyria |
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Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
Orofaciodigital Syndrome Xv |
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Flat face, Wide nasal bridge, Broad hallux, Duplication of phalanx of hallux, Anteverted nares, P... |
OMIM:617127 |
Acrodysostosis |
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Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Hearing impairment, Short toe... |
ORPHA:950 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Macrotia, Abnormality of the elbow, Short stature, Short nose, Carious teeth, Anteverted nares, B... |
ORPHA:2701 |
Rh-Null, Regulator Type |
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Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
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Micrognathia, Hearing impairment, Recurrent otitis media, Triangular face |
OMIM:619243 |
Abruzzo-Erickson Syndrome |
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Short toe, Flat face, Conductive hearing impairment, Macrotia, Sensorineural hearing impairment, ... |
ORPHA:921 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Short sternum, Retrognathia, Clinodactyly of the 4th toe, Short stature, Clinodactyly of the 5th ... |
OMIM:620113 |
15q26 overgrowth syndrome |
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Camptodactyly of finger, Tapered finger, Wide nasal bridge, Micrognathia, Prominent nose, Triangu... |
DECIPHER:81 |
Arthrogryposis, Distal, Type 2A |
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Wrist flexion contracture, Wide nasal bridge, Abnormal auditory evoked potentials, Elbow flexion ... |
OMIM:193700 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Periventricular Nodular Heterotopia 7 |
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Knee flexion contracture, 1-4 toe syndactyly, 2-3 toe syndactyly, Sensorineural hearing impairmen... |
OMIM:617201 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Abnormal antihelix morphology, Preaxial hand polydactyly, Conductive hearing impairment, Short st... |
ORPHA:79113 |
16P11.2P12.2 Microdeletion Syndrome |
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Camptodactyly of finger, Flat face, Absent nasal bridge, Short stature, Toe syndactyly, Intrauter... |
ORPHA:261211 |
Cebalid Syndrome |
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Flat face, Depressed nasal ridge, Short nose, Depressed nasal bridge, Abnormal pinna morphology, ... |
OMIM:618774 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
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Low-set ears, Flat face, Epiphyseal stippling, Wide nasal bridge |
OMIM:614859 |
17P13.3 Microduplication Syndrome |
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Wide nose, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, Low-set ears |
ORPHA:217385 |
20Q13.33 Microdeletion Syndrome |
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Tapered finger, Prominent crus of helix, Hallux valgus, Short lower limbs, Hip dislocation, Trian... |
ORPHA:261311 |
Hepatic Veno-Occlusive Disease |
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Increased total bilirubin, Increased body weight |
ORPHA:890 |
14Q11.2 Microdeletion Syndrome |
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Toe syndactyly, Micrognathia, Short nose, Toe clinodactyly, Depressed nasal bridge, Low-set, post... |
ORPHA:261120 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... |
OMIM:267700 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Wide nose, Macrotia, Sensorineural hearing impairment, Abnormal facial shape, Slender toe, Clinod... |
ORPHA:391408 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Wide anterior fontanel, Triangular face, Large face, Depressed nasal bridge, Anteverted nares |
OMIM:614883 |
Otospondylomegaepiphyseal Dysplasia |
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Short phalanx of finger, Micrognathia, Fibular bowing, Enlarged joints, Posteriorly rotated ears,... |
ORPHA:1427 |
Silver-Russell Syndrome Due To A Point Mutation |
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Polydactyly, Short 5th finger, Micrognathia, Clinodactyly of the 5th finger, Triangular face, Syn... |
ORPHA:397590 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Iliac crest serration, Metaphyseal cupping, Short stature, Short long bone, Microtia, ... |
OMIM:613320 |
Short Syndrome |
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Abnormal mandible morphology, Sensorineural hearing impairment, Wide nasal bridge, Triangular fac... |
ORPHA:3163 |
Desbuquois Dysplasia 1 |
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Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Kniest Dysplasia |
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Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Conductive ... |
OMIM:156550 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Flat face, Hypoplastic pubic bone, Short long bone, Coarse facial features, Micrognathia, Delayed... |
ORPHA:93346 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Short stature, Abnormal facial shape, Short nose, Sandal gap, Optic disc pallor, Posteriorly rota... |
OMIM:300887 |
Hennekam-Beemer Syndrome |
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Camptodactyly of finger, Wide nose, Delayed cranial suture closure, Conductive hearing impairment... |
ORPHA:2135 |
Steel Syndrome |
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Sensorineural hearing impairment, Coxa vara, Wide nasal bridge, Short stature, Clinodactyly of th... |
OMIM:615155 |
Sotos Syndrome |
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Genu valgum, Conductive hearing impairment, Macrotia, Mandibular prognathia, Enlarged naris, Adva... |
OMIM:117550 |
Yuan-Harel-Lupski Syndrome |
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Wide nose, Talipes valgus, Clinodactyly of the 5th finger, Triangular face, Decreased nerve condu... |
OMIM:616652 |
Ohdo Syndrome, X-Linked |
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Prominent nose, Wide nasal bridge, Microtia, Coarse facial features, Hip dysplasia, Micrognathia,... |
OMIM:300895 |
Teebi Hypertelorism Syndrome 2 |
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Wide anterior fontanel, Delayed eruption of teeth, Clinodactyly of the 5th finger, Short nose, Sy... |
OMIM:619736 |
Maxillonasal Dysplasia |
|
Flat face, Mandibular prognathia, Abnormal nostril morphology, Depressed nasal ridge, Short nose,... |
ORPHA:1248 |
Emery-Nelson Syndrome |
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Camptodactyly of finger, Flat face, Interphalangeal thumb joint contracture, Abnormal thumb morph... |
ORPHA:1927 |
Craniosynostosis, Herrmann-Opitz Type |
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Abnormal antihelix morphology, Convex nasal ridge, Finger syndactyly, Short stature, Microtia, Mi... |
ORPHA:2145 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Flat face, Wide nasal bridge, Short stature, Camptodactyly, Round face, Growth delay, Abnormal pi... |
OMIM:617333 |
Bone Dysplasia, Lethal Holmgren Type |
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Hearing abnormality, Flat face, Joint dislocation, Depressed nasal ridge, Abnormality of the elbo... |
ORPHA:1842 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Microtia, Triangular face, Low-set ears, Posteriorly rotated ears |
OMIM:301025 |
Relapsing Fever |
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Increased total bilirubin, Leukopenia, Anemia, Hypotension, Neutrophilia, Epistaxis, Elevated cir... |
ORPHA:91547 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Delayed eruption of teeth, Pulp calcificatio... |
OMIM:166750 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Ankle fle... |
OMIM:617519 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
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Clinodactyly of the 5th finger, Short nose, Delayed eruption of permanent teeth, Anteverted nares... |
OMIM:618506 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
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Abnormal facial shape, Micrognathia, Hearing impairment, Long face, Broad nasal tip, Depressed na... |
ORPHA:480907 |
Intellectual Developmental Disorder, X-Linked 30 |
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Flat face, Macrotia, Short stature, Short nose, Anteverted nares, Prominent nasal bridge, Promine... |
OMIM:300558 |
3Q27.3 Microdeletion Syndrome |
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Small earlobe, Convex nasal ridge, Mandibular prognathia, Triangular face, Arachnodactyly, Low-se... |
ORPHA:397695 |
Grant Syndrome |
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Flat face, Joint dislocation, Short stature, Micrognathia, Facial asymmetry, Abnormality of the g... |
ORPHA:2097 |
Chung-Jansen Syndrome |
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Macrotia, Tapered finger, Hip dysplasia, Micrognathia, Clinodactyly of the 5th finger, Round face... |
OMIM:617991 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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EEG with centrotemporal focal spike waves, Continuous spike and waves during slow sleep, Short st... |
OMIM:245570 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Narrow nasal ridge, Triangular face, Wormian bones, Congenital hip dislocation, Bulbous nose, Bow... |
OMIM:612940 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Patellar dislocation, Micrognathia, Elbow flexion contracture, Flat capital femora... |
ORPHA:536471 |
Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Failure to thrive, Vacuolated lymphocytes, Splenomegaly, Conjugated hyp... |
OMIM:269920 |
Ohdo Syndrome |
|
Wide nasal bridge, Microtia, Short stature, Micrognathia, Clinodactyly of the 5th finger, Short n... |
OMIM:249620 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Triangular face, Femoral bowing, Broad th... |
OMIM:619638 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Macrotia, Optic atrophy, Micrognathia, Short nose, Congenital hip dislocatio... |
ORPHA:3078 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Depressed nasal ridge, Rhizomelia, Short stature, Sh... |
OMIM:300863 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Macrotia, Tapered finger, Wide nasal bridge, Decreased motor nerve conduction... |
OMIM:218000 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Conductive hearing impairment, Short 1st metacarpal, Short stature, Hypoplasia of t... |
OMIM:609053 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Low-set ears, Triangular face, Optic nerve hypoplasia |
ORPHA:65288 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Short foot, Finger syndactyly, Low-set ears, Toe syndactyly, Sho... |
ORPHA:93258 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:235555 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Thanatophoric Dysplasia |
|
Flat face, Low-set ears, Hip dysplasia, Intrauterine growth retardation, Depressed nasal bridge, ... |
ORPHA:2655 |
Andersen-Tawil Syndrome |
|
2-3 toe syndactyly, Small hand, Wide nasal bridge, Short stature, Abnormal facial shape, Microgna... |
ORPHA:37553 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Convex nasal ridge, Sensorineural hearing impairment, Short stature, Triangular face, Short nose,... |
OMIM:300661 |
Simosa Craniofacial Syndrome |
|
Underdeveloped nasal alae, Hearing abnormality, Flat face, Wide nasal bridge, Long nose, Long fac... |
OMIM:182150 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Short long bone, Long nose, Triangular face, Bicoronal synostosis, Long face, ... |
OMIM:619184 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Flat face, Finger syndactyly, Short stature, Microt... |
ORPHA:2994 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Retrognathia, 2-3 toe syndactyly, Wide nasal bridge, Triangular face, Depressed nasal bridge, Joi... |
OMIM:620098 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Short nose, Disproportionate short-limb short stature, Brachydactyly, Cone-shaped epi... |
OMIM:618618 |
Craniofacial-Deafness-Hand Syndrome |
|
Flat face, Sensorineural hearing impairment, Narrow naris, Short nose, Hypoplasia of the maxilla,... |
OMIM:122880 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Convex nasal ridge, Sensorineural hearing impairment, Short stature, Clinodactyly, Triangular fac... |
OMIM:616541 |
Silver-Russell Syndrome |
|
Delayed cranial suture closure, Abnormality of the calcaneus, Short stature, Micrognathia, Clinod... |
ORPHA:813 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Ruijs-Aalfs Syndrome |
|
Short stature, Micrognathia, Elbow flexion contracture, Clinodactyly, Down-sloping shoulders, Tri... |
OMIM:616200 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Flat face, Short foot, Short stature, Brachydactyly, Low-set ears, Mild short stature, Short palm... |
OMIM:618522 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Depressed nasal ridge, Rhizomel... |
ORPHA:163966 |
Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Micrognathia, Round face, Short nose, Anteverted nares, Low-set ... |
ORPHA:2849 |
Chromosome 16Q22 Deletion Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Hip dysplasia, Micro... |
OMIM:614541 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Short stature, Del... |
ORPHA:73272 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, Round face, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract i... |
OMIM:614069 |
Facial Paresis, Hereditary Congenital, 3 |
|
Sensorineural hearing impairment, Micrognathia, Short nose, Depressed nasal bridge, Anteverted na... |
OMIM:614744 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Microtia, Clinodactyly of the 5th finger, Prominent metopic ridge, Shor... |
OMIM:618619 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Short stature, Coarse facial features, Abnormal auditory evoked... |
OMIM:619260 |
Burn-Mckeown Syndrome |
|
Short stature, Wide nasal bridge, Short nose, Bilateral choanal atresia, Prominent nasal bridge |
ORPHA:1200 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, Short stature, Coronal craniosynostosis, Microretrognathia, Triangular... |
OMIM:616294 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Flat face, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limited ... |
ORPHA:156728 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Retrognathia, Flat face, Wide nasal bridge, Coarse facial features, Round face, Anteverted nares,... |
OMIM:615979 |
Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Short middle phalanx of the 5th finger, Micrognathia, Clinodactyl... |
OMIM:180860 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Short 5th finger, Sensorineural h... |
ORPHA:557003 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Short humerus, Short ... |
OMIM:250215 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Gastrointestinal hemorrhage, Portal hypert... |
ORPHA:64743 |
Distal Monosomy 3P |
|
Short stature, Micrognathia, Clinodactyly of the 5th finger, Triangular face, Abnormal vestibulo-... |
ORPHA:1620 |
16Q24.3 Microdeletion Syndrome |
|
Hip dysplasia, Micrognathia, Optic nerve hypoplasia, Triangular face, Chronic otitis media, Long ... |
ORPHA:261250 |
Distal Monosomy 7Q36 |
|
Symphalangism affecting the phalanges of the hand, Flat face, Macrotia, Optic atrophy, Short stat... |
ORPHA:1636 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Optic atrophy, Short stature, Clinodactyly, Short nose, Hypoplasia of the maxilla, Hea... |
OMIM:614261 |
Meier-Gorlin Syndrome 3 |
|
Genu varum, Patellar hypoplasia, Patellar aplasia, Coxa vara, Microtia, Birth length less than 3r... |
OMIM:613803 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup... |
ORPHA:166272 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Microtia, Toe syndactyly, Micrognathia, Craniosynostosis, Radioulnar synostosis, Short nose, Shor... |
ORPHA:171839 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Clinodactyly of the 5th finger, Down-sloping shou... |
ORPHA:1974 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Short stature, Micrognat... |
OMIM:619322 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Dermotrichic Syndrome |
|
Macrotia, EEG abnormality, Aganglionic megacolon, Short nose, Depressed nasal bridge, Proportiona... |
ORPHA:99688 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... |
OMIM:614886 |
Miller-Dieker Syndrome |
|
EEG abnormality, Clinodactyly of the 5th finger, Short nose, Growth delay, Anteverted nares |
ORPHA:531 |
Peho-Like Syndrome |
|
Retrognathia, Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose |
OMIM:617507 |
Clark-Baraitser Syndrome |
|
Clinodactyly, Short nose, Large earlobe, Depressed nasal bridge, Sandal gap, Anteverted nares, Lo... |
OMIM:617752 |
Noonan Syndrome 14 |
|
Short stature, Coarse facial features, Clinodactyly, Prominent nasolabial fold, Triangular face, ... |
OMIM:619745 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... |
OMIM:603553 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ear, Cutaneous finger syndactyly, Triangular face, Cutaneous syndactyly of toes |
OMIM:225060 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Triangular shaped distal phalanges of the hand, Slender long bone, Micrognathia... |
ORPHA:73230 |
Pterygium Colli, Isolated |
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Protruding ear, Short nose |
OMIM:177990 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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Sensorineural hearing impairment, Tapered finger, Finger joint hypermobility, Hip dysplasia, Inte... |
ORPHA:544503 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Tapered finger, Interphalangeal thumb joint contracture, Abnormal autonomic nervous system physio... |
OMIM:613870 |
Tolchin-Le Caignec Syndrome |
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Macrotia, Sensorineural hearing impairment, Prominent nose, Wide nasal bridge, Micrognathia, Abno... |
OMIM:618971 |
Lethal Kniest-Like Dysplasia |
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Flat face, Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Mesomelic/rhizom... |
ORPHA:2347 |
Partington Syndrome |
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EEG abnormality, Triangular face |
ORPHA:94083 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
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Triangular face |
ORPHA:1174 |
Biliary Atresia, Extrahepatic |
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Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Failure to thrive, Extra... |
ORPHA:79303 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
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Camptodactyly of finger, Underdeveloped nasal alae, Macrotia, Micrognathia, Intrauterine growth r... |
ORPHA:2083 |
Fibrochondrogenesis 1 |
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Dumbbell-shaped long bone, Camptodactyly, Widely patent coronal suture, Narrow greater sciatic no... |
OMIM:228520 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Underdeveloped nasal alae, Narrow nasal ridge, Elbow flexion contracture, Hip dislocation, Triang... |
OMIM:614438 |
Larsen Syndrome |
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Flat face, Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Short statur... |
ORPHA:503 |
Al-Raqad Syndrome |
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Flat face, Short nose, Sandal gap, Brachydactyly, Low-set ears |
OMIM:616459 |
Kbg Syndrome |
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Underdeveloped nasal alae, Vertebral fusion, Macrotia, Short stature, Clinodactyly of the 5th fin... |
OMIM:148050 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Symphalangism affecting the phalanges of the hand, Prominent nose, Wide nasal bridge, Short statu... |
ORPHA:1292 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Broad nasal tip, Hearing impairment, Wide nasal bridge, Short nose |
OMIM:614207 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Coxa valga, Optic atrophy, Short stature, Coarse facial features, Hip dysplasia, Micrognathia, In... |
OMIM:619833 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Optic atrophy, Short stature, Slender long bone, Short nose, Spina bifida occulta, Cubitus valgus... |
ORPHA:1185 |
Kniest Dysplasia |
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Dumbbell-shaped long bone, Round face, Enlarged joints, Delayed patellar ossification, Disproport... |
ORPHA:485 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Wide anterior fontanel, Abnormal facial shape, Facial asymmetry, Triangular face, Short nose, Con... |
ORPHA:457279 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Flat face, Sensorineural hearing impairment, Elbow flexion contracture, Short nose, Contracture o... |
OMIM:612394 |
Nabais Sa-De Vries Syndrome, Type 1 |
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Thickened helices, Clinodactyly of the 5th finger, Short nose, Optic nerve hypoplasia, Depressed ... |
OMIM:618828 |
Marshall Syndrome |
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Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Recurrent otitis media, Short nose,... |
OMIM:154780 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Retrognathia, Flat face, Sensorineural hearing impairment, Patellar hypoplasia, Depressed nasal r... |
ORPHA:464288 |
Isolated Arrhinia |
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Underdeveloped nasal alae, Aplasia of the nose, Microtia, Absent nasal septal cartilage, Midline ... |
ORPHA:1134 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... |
ORPHA:52368 |
Transaldolase Deficiency |
|
Wide anterior fontanel, Triangular face, Depressed nasal bridge, Low-set ears, Intrauterine growt... |
OMIM:606003 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Flat face, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Fla... |
OMIM:608728 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Enlarged joints, Posteriorly rotated ears, Triangular fac... |
OMIM:601358 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Failu... |
OMIM:614300 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Short 5th metacarpal, Sensorineural hearing impairment, Short stature, L... |
OMIM:215150 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short nose, Brachy... |
OMIM:601224 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Partial Deletion Of The Short Arm Of Chromosome 7 |
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Aplasia of the distal phalanx of the 5th finger, Retrognathia, Contracture of thumb, Small hand, ... |
ORPHA:261911 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Underdeveloped nasal alae, Retrognathia, Macrotia, Wide nasal bridge, Cutaneous finger syndactyly... |
OMIM:613026 |
Cenani-Lenz Syndrome |
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Convex nasal ridge, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radiu... |
ORPHA:3258 |
Thanatophoric Dysplasia Type 1 |
|
Flat face, Wide anterior fontanel, Hypoplastic ilia, Short femur, Femoral bowing, Hearing impairm... |
ORPHA:1860 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Marshall-Smith Syndrome |
|
Bilateral conductive hearing impairment, Hallux valgus, Cholesteatoma, Optic nerve hypoplasia, Sl... |
OMIM:602535 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Micrognathia, Short nose, Broad nasal tip, Low-set ears, Prominent nasal bridge |
OMIM:613544 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
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Genu valgum, Microtia, Severe sensorineural hearing impairment, Short nose, Spina bifida occulta,... |
ORPHA:2983 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Depressed nas... |
ORPHA:1522 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, EEG abnormality, Camptodactyly, Round face, Broad hallux, Posteriorly rotated ear... |
OMIM:301044 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Flat face, Choanal stenosis, Short stature, Clinodactyly of the 5th finger, Short nose, Bilateral... |
OMIM:619859 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Short stature, Micrognathia, Facial asymmetry, Low-set ears, Cu... |
ORPHA:2533 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Abnormal facial shape, Long toe, Slender finger, Long fingers, Hearing impairment, Postnatal grow... |
OMIM:613355 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Microtia, Hip dysplasia, Preaxial foot... |
ORPHA:1988 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Short nose, Large earlobe, ... |
OMIM:615716 |
Thoracomelic Dysplasia |
|
Genu valgum, Flat face, Round face, Abnormal pelvic girdle bone morphology, Elbow dislocation, Di... |
ORPHA:1803 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Short stature, Triangular face, Narrow face, Long face, Growth delay, Cupped ear, Protruding ear |
ORPHA:93947 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Short nose, Dup... |
OMIM:243310 |
Trisomy 12P |
|
Abnormal antihelix morphology, Flat face, Wide nasal bridge, Short stature, Micrognathia, Clinoda... |
ORPHA:1699 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, 2-3 toe syndactyly, Abnormal facial shape, Triangular face, Decreased nerve conduction... |
ORPHA:477817 |
Halperin-Birk Syndrome |
|
Optic atrophy, Micrognathia, Hip dislocation, Triangular face, Intrauterine growth retardation, H... |
OMIM:618651 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Hip dislocation, Roun... |
OMIM:615777 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90036 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Mandibular prognathia, Hypoplastic helices, EEG abnormality, Abnormality of the ear... |
ORPHA:391372 |
Cree Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Micrognathia, Triangular face, Rocker bottom foot, Low-set ears, Pos... |
OMIM:606851 |
Noonan Syndrome With Multiple Lentigines |
|
Sensorineural hearing impairment, Wide nasal bridge, Short stature, Severe sensorineural hearing ... |
ORPHA:500 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Coxa valga, Tapered finger, Abnormality of the middle ear ossicles... |
ORPHA:949 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Delayed cranial suture closure, Flat face, Conductive hearing impairment, Low-set e... |
ORPHA:2780 |
Saul-Wilson Syndrome |
|
Convex nasal ridge, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epiphyses, Sen... |
OMIM:618150 |
Bruck Syndrome |
|
Short stature, Pterygium, Triangular face, Bowing of the long bones, Wormian bones |
ORPHA:2771 |
Dubowitz Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Short stature, Micrognathia, Clinodactyly of the 5t... |
OMIM:223370 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Cockayne Syndrome B |
|
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Sensorineural hearing impairm... |
OMIM:133540 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Hyperbilirubinemia, Hematochezia, Decreased serum bile acid concentration |
OMIM:214950 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hyperbilirubinemia, Obesity |
OMIM:609734 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flat face, Fractured radius, Wide nasal bridge, Micrognathia, Short femur, Adducted thumb, Large ... |
OMIM:616897 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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2-3 toe syndactyly, Clinodactyly of the 5th finger, Short nose, Depressed nasal bridge, Anteverte... |
OMIM:613443 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... |
ORPHA:3250 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Tapered finger, Optic atrophy, Micrognathia, Camptodactyly, Overlapping toe, Cupped ear, Hearing ... |
OMIM:309590 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Ulnar deviation of finger, Short nose, Slender finger, Anteverted nares, Low-set ea... |
ORPHA:1895 |
Achondrogenesis Type 1B |
|
Flat face, Micrognathia, Short nose, Disproportionate short stature, Severe short stature, Anteve... |
ORPHA:93298 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Microtia, Short nose, Epiphyseal dysplasia, Severe short stature, Dysplasi... |
OMIM:616854 |
Donnai-Barrow Syndrome |
|
Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Depressed nasal bridge, Pos... |
ORPHA:2143 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Flat face, Mandibular prognathia, Finger synda... |
ORPHA:710 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Hammertoe, Abnormal cranial nerve morphology, Prolonge... |
OMIM:601596 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Short statu... |
OMIM:616331 |
Distal Trisomy 5Q |
|
Absent thumb, Macrotia, Flat face, Short stature, Hypoplasia of the radius, Micrognathia, Cranios... |
ORPHA:96097 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Flat face, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Hypsarrhythmia, Lo... |
OMIM:607906 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Sensorineural hearing impairment, Depressed nasal ridge, Hyposmia, Limited... |
OMIM:151100 |
Fetal Hydantoin Syndrome |
|
Triphalangeal thumb, Hearing abnormality, Depressed nasal ridge, Short stature, Short nose, Abnor... |
ORPHA:1912 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microtia, Micrognathi... |
ORPHA:2547 |
Sponastrime Dysplasia |
|
Hip subluxation, Aplasia of the nasal bone, Flat capital femoral epiphysis, Hip dislocation, Ivor... |
ORPHA:93357 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Wide nasal bridge, Optic atrophy, Micrognathia, Prominent metopic ridge, Triangu... |
OMIM:613457 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Conductive hearing impairment, Short 5th metacarpal, Short stature, Clinodactyly of th... |
OMIM:617877 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Hyperbilirubinemia, Heart block, Capilla... |
ORPHA:542323 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Abnormal nostril morphology, Short stature, Micrognathia, Clinodactyly of the 5th fing... |
ORPHA:94063 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Camptodactyly of finger, Abnormal antihelix morphology, Flat face, Macrotia, Underdeveloped nasal... |
ORPHA:1968 |
Trisomy 10P |
|
Abnormal auditory evoked potentials, Micrognathia, Camptodactyly, Posteriorly rotated ears, Short... |
ORPHA:171929 |
Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Disproportionate short-trunk short stature, Vertebral fusion, Capitate-h... |
OMIM:272460 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... |
OMIM:611881 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Bilateral conductive hearing impairment, Natal tooth, Micrognathia, Interictal epileptiform activ... |
OMIM:617802 |
Marshall Syndrome |
|
Flat face, Genu valgum, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micro... |
ORPHA:560 |
17Q24.2 Microdeletion Syndrome |
|
Upper limb undergrowth, Otosclerosis, Wide nasal bridge, Microtia, Micrognathia, Abnormality of t... |
ORPHA:529962 |
Mietens Syndrome |
|
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... |
ORPHA:2557 |
Distal Monosomy 15Q |
|
Genu valgum, Small hand, Low-set ears, Short stature, Coarse facial features, Micrognathia, Short... |
ORPHA:1596 |
Fetal Trimethadione Syndrome |
|
Micrognathia, Short nose, Depressed nasal bridge, Intrauterine growth retardation, Low-set ears, ... |
ORPHA:1913 |
Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Microtia, Micrognathia, Short nose, Triangular face, Depressed nasal bridge, Anteve... |
OMIM:608013 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Wide nasal bridge, Rhizo-meso-acromelic limb shortening, Round face, Sho... |
OMIM:611717 |
Tetrasomy 5P |
|
Flat face, Wide anterior fontanel, Wide nasal bridge, Coarse facial features, Micrognathia, Clino... |
ORPHA:3309 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Wide nasal bridge,... |
OMIM:605130 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Con... |
ORPHA:794 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Microtia, Short stature, Narrow pelvis bone, Carpal bone hy... |
OMIM:616723 |
Marshall-Smith Syndrome |
|
Retrognathia, Conductive hearing impairment, Optic atrophy, Craniosynostosis, Slender long bone, ... |
ORPHA:561 |
Trisomy 18 |
|
Camptodactyly of finger, Pointed helix, Short stature, Narrow pelvis bone, Microretrognathia, Tri... |
ORPHA:3380 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, Coarse facial ... |
ORPHA:485405 |
Lethal Congenital Contracture Syndrome 9 |
|
Micrognathia, Triangular face, Adducted thumb, Depressed nasal bridge, Anteverted nares, Low-set ... |
OMIM:616503 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Flat face, Anterior bowing of long bones, Coxa valga, Coxa vara, Hip c... |
OMIM:255800 |
Achondrogenesis Type 1A |
|
Flat face, Short foot, Micrognathia, Short nose, Severe short stature, Anteverted nares, Short palm |
ORPHA:93299 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal br... |
ORPHA:1514 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Failure to thrive, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
Kyphomelic Dysplasia |
|
Flat face, Micrognathia, Flat acetabular roof, Disproportionate short stature, Abnormal metaphysi... |
ORPHA:1801 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Preaxial hand polydactyly, Short stature, Microtia, Micrognathia, ... |
OMIM:610536 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea, Failure to thrive, Hematochezia, Splenomegaly |
OMIM:613812 |
Craniofacioskeletal Syndrome |
|
Short foot, Small hand, Microtia, Short stature, Micrognathia, Clinodactyly of the 5th finger, Tr... |
OMIM:300712 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defi... |
ORPHA:1667 |
Thanatophoric Dysplasia Type 2 |
|
Flat face, Short stature, Depressed nasal bridge, Brachydactyly, Abnormal metaphysis morphology, ... |
ORPHA:93274 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Mandibular prognathia, Delayed eruption of primary teeth, EEG abno... |
ORPHA:819 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, Short stature, Delayed eruption of teeth, Clinodactyly, Intrauterine g... |
OMIM:615866 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Broad nasal tip, Short nose |
OMIM:613670 |
Schimke Immunoosseous Dysplasia |
|
Wide nasal bridge, Disproportionate short-trunk short stature, Triangular face, Depressed nasal b... |
OMIM:242900 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Flat face, Rhizomelia, Short stature, Hypoplasia of the radius, Slender long bone, Micrognathia, ... |
OMIM:602613 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
Intellectual Disability-Strabismus Syndrome |
|
Congenital finger flexion contractures, Macrotia, Prominent nose, Narrow nasal ridge, Joint contr... |
ORPHA:363528 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Underdeveloped nasal alae, Metaphyseal irregularity, Genu valgum, Tapered finger, Sensorineural h... |
OMIM:616007 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Macrotia, Sensorineural hearing impairment, Wide nasal bridge, Short stature, Micrognathia, Oval ... |
OMIM:300749 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Delayed closure of the anterior fontanelle, Abnormal facial shape, Micrognathia, Clinodactyly, Cl... |
ORPHA:96182 |
Menke-Hennekam Syndrome 2 |
|
Flat face, Cutaneous syndactyly of toes, Micrognathia, Overlapping toe, Narrow nasal bridge, Depr... |
OMIM:618333 |
Feingold Syndrome 1 |
|
2-3 toe syndactyly, Short toe, Wide nasal bridge, Micrognathia, Depressed nasal tip, Facial asymm... |
OMIM:164280 |
Autosomal Dominant Omodysplasia |
|
Patellar dislocation, Short 1st metacarpal, Rhizomelia, Micrognathia, Short nose, Elbow dislocati... |
ORPHA:93328 |
Branchiootic Syndrome 1 |
|
Retrognathia, Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of ... |
OMIM:602588 |
Nizon-Isidor Syndrome |
|
Prominent nasal bridge, Triangular face, Depressed nasal bridge, Anteverted nares, Bulbous nose, ... |
OMIM:618872 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Retrognathia, Macrotia, Finger joint hypermobility, Short stature, Triangular face, Depressed nas... |
OMIM:613563 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Short middle ... |
OMIM:136140 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling of toe phalanges, Nasal congestion, Stippling of the epiphyses of the distal... |
ORPHA:79345 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Joubert Syndrome 27 |
|
Polydactyly, Triangular face |
OMIM:617120 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Coarse facial features, Mandibular prognathia, Short nose |
ORPHA:2429 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Low-set ears, Flat face |
OMIM:616994 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, EEG with burst suppression, Coarse facial features, Triangular face, Low-set ears,... |
OMIM:617260 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Campomelic Dysplasia |
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Flat face, Short stature, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocati... |
ORPHA:140 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
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Flat face, Wide nasal bridge, Microtia, Micrognathia, Round face, Recurrent otitis media, Antever... |
OMIM:602562 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Spondyloepiphyseal Dysplasia Congenita |
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Genu valgum, Upper limb undergrowth, Flat face, Short femoral neck, Limited elbow movement, Short... |
ORPHA:94068 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1307 |
Apert Syndrome |
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Morphological abnormality of the semicircular canal, Aplasia/Hypoplasia of the thumb, Conductive ... |
ORPHA:87 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Flat face, Wide nasal bridge, Short long bone, Micrognathia, Pterygium, Severe short stature, Dis... |
OMIM:224410 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Hyperbilirubinemia, Intracranial he... |
ORPHA:464321 |
Achondrogenesis |
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Flat face, Micrognathia, Short nose, Severe short stature, Anteverted nares |
ORPHA:932 |
Osteogenesis Imperfecta, Type Xi |
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Protrusio acetabuli, Dentinogenesis imperfecta, Coxa vara, Short stature, Triangular face |
OMIM:610968 |
Tetrasomy 18P |
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Low-set, posteriorly rotated ears, Facial asymmetry, Short nose |
ORPHA:3307 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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