Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodyst... |
OMIM:608154 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Micrognathia, Flexion contracture, Wide nasal bridge, Retrognathia, High palat... |
ORPHA:98791 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Osteolysis ... |
OMIM:166300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Cleft upper lip, Retrognathia, Cleft palate, Persistence of hemo... |
OMIM:612561 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum, Osteop... |
OMIM:156510 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge |
OMIM:618302 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition |
ORPHA:2776 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight |
ORPHA:93950 |
Pycnodysostosis |
|
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... |
ORPHA:763 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... |
ORPHA:1248 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ... |
ORPHA:915 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Hypop... |
OMIM:136760 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Inguinal hernia, Wide nasal bridge, Joint hyperflexibility, Narrow ... |
ORPHA:2412 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palate, Camptodactyly |
OMIM:246560 |
Cohen Syndrome |
|
Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Leukopen... |
OMIM:216550 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Micrognathia, Thrombocytopenia, Oral ulcer... |
OMIM:617052 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Hyp... |
ORPHA:2409 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Calvarial hyperostosis,... |
OMIM:612714 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... |
ORPHA:848 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Long philtrum, S... |
ORPHA:90653 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Short nose, Camptodactyly of finger, Narrow mouth |
ORPHA:1529 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Short no... |
OMIM:137550 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors |
ORPHA:397973 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Retrognathia, ... |
OMIM:620157 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight |
ORPHA:93945 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flattening, Long philtrum |
ORPHA:261295 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Carious teeth, Thr... |
OMIM:259700 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... |
OMIM:300946 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, D... |
OMIM:257850 |
Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:776 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Slender build |
OMIM:300676 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Lip discoloration, Small for gestational age |
ORPHA:621 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Hiatus hernia, Persistence of hemoglob... |
OMIM:619769 |
Recon Progeroid Syndrome |
|
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Dental crowding, Anemia, Delayed eru... |
OMIM:620370 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology,... |
ORPHA:439822 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1798 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231214 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Cleft upper lip, Hypoplas... |
OMIM:305400 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors |
OMIM:618737 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma... |
ORPHA:861 |
Carpenter Syndrome 1 |
|
Omphalocele, Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Persistence of p... |
OMIM:201000 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Micrognathia, Persistence of hemoglobin F, Everted lower lip vermilion,... |
OMIM:617101 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, High palate, Short nose |
OMIM:218000 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Wide nasa... |
ORPHA:950 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxill... |
ORPHA:178303 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Abnormal cortical bone morphology, Wide nasal bridge, Decreased bod... |
OMIM:614886 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Failure to thrive, Lipoatrophy, Recurrent fractures, Micrognathia, Hyp... |
OMIM:601812 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario... |
OMIM:131300 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Camptodactyly of finger |
ORPHA:85279 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Short nose, Failure to thrive |
OMIM:614261 |
Cohen Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypopl... |
ORPHA:193 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Short philt... |
OMIM:601499 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Hypoplasti... |
ORPHA:560 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Th... |
ORPHA:481152 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem... |
OMIM:300534 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplas... |
OMIM:601390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,... |
OMIM:309520 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp... |
OMIM:170390 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, Coron... |
OMIM:101600 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... |
ORPHA:79113 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Inguinal hernia, Tented upper lip vermilion, Irregular dentition, Micro... |
OMIM:615546 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Small for gestational... |
ORPHA:2909 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Malar flattening, Protruding tongue, Absent ... |
OMIM:301040 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion cont... |
OMIM:608149 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis |
ORPHA:207 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Persistence of... |
OMIM:260400 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Lipomas of eyelids, Wide nasal bridge |
OMIM:167730 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Keipert Syndrome |
|
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow |
ORPHA:2662 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Micr... |
ORPHA:124 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Inguinal hernia, Delayed eruption of teeth, Camptodactyly of f... |
OMIM:166250 |
Dyskeratosis Congenita |
|
Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hypoplasia of the ... |
ORPHA:1775 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Carious teeth, Cleft upper lip, Velopharyngeal insuffic... |
OMIM:129400 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Tarsal synostosis, Hypoplasia of the maxilla, Cleft palate, High palate, Narro... |
ORPHA:1307 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma... |
OMIM:101800 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-midline cleft lip, Cleft palate, Wi... |
ORPHA:245 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology |
ORPHA:93262 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology |
ORPHA:1540 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... |
OMIM:182212 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxil... |
OMIM:608156 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin... |
ORPHA:330015 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Inguinal hernia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Microgna... |
ORPHA:2462 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
Marshall-Smith Syndrome |
|
Omphalocele, Microretrognathia, Prominence of the premaxilla, Decreased hip abduction, Large ster... |
OMIM:602535 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum |
OMIM:619142 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodontia, Microdontia |
ORPHA:782 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Wide mouth, Macrogl... |
OMIM:105830 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Wide nasa... |
ORPHA:314679 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Wide nas... |
OMIM:265050 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig... |
OMIM:123500 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Craniosynostosis, Lar... |
OMIM:213980 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxilla, Cleft upper... |
ORPHA:828 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Umbilical hernia, Coronal c... |
ORPHA:2095 |
Martsolf Syndrome 1 |
|
Joint laxity, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtr... |
OMIM:212720 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Narrow mouth, Failure to thrive |
OMIM:613804 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Abnormal ossification involving the fe... |
ORPHA:79345 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Abnormal hemoglobin, Joint stiffness, Abnormality of the dentition, F... |
ORPHA:847 |
Distal Xq28 Microduplication Syndrome |
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Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Greenberg Dysplasia |
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Recurrent fractures, Micrognathia, Multiple prenatal fractures, Costal cartilage calcification, P... |
OMIM:215140 |
Mohr Syndrome |
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Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
Myhre Syndrome |
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Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffnes... |
ORPHA:2588 |
Atelosteogenesis, Type Iii |
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Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia |
OMIM:108721 |
Cowden Syndrome 1 |
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Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Lymphopenia,... |
OMIM:158350 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum |
ORPHA:228396 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
ORPHA:2554 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Meier-Gorlin Syndrome 1 |
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Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Microgna... |
OMIM:224690 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Hypohidrotic Ectodermal Dysplasia |
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Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
Acrofacial Dysostosis, Cincinnati Type |
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Micrognathia, Hypoplasia of the maxilla, Cleft palate, Decreased body weight, Retrognathia, Aplas... |
OMIM:616462 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Cleft upper lip, Reticulocytopeni... |
OMIM:105650 |
Meier-Gorlin Syndrome 5 |
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Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
Cleft Velum |
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Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Cowden Syndrome 5 |
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Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Subcutaneous... |
OMIM:615108 |
Meier-Gorlin Syndrome 3 |
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Microretrognathia, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Thick ve... |
OMIM:613803 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Hypoplasia of the maxilla, Malar flattening |
OMIM:109120 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Branchioskeletogenital Syndrome |
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Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, H... |
ORPHA:1299 |
Cowden Syndrome 6 |
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Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, High palate, Narrow mouth, Subcutaneous... |
OMIM:615109 |
Van Den Ende-Gupta Syndrome |
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Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
OMIM:600920 |
Microphthalmia With Limb Anomalies |
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Failure to thrive, Macrodontia, Tarsal synostosis, Hypoplasia of the premaxilla, Micrognathia, Hy... |
ORPHA:1106 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Zttk Syndrome |
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Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Flexion contracture, S... |
OMIM:617140 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Apert Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Frontorhiny |
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Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu... |
ORPHA:391474 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
Gaisböck Syndrome |
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Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc... |
ORPHA:90041 |
Distal Deletion 19P |
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Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Umbilical hernia... |
ORPHA:96129 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Multiple lipomas, Lipomas of eyelids |
ORPHA:2399 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Saethre-Chotzen Syndrome |
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Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia of the maxilla, Open bite, Narrow p... |
ORPHA:794 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Reduced subcutaneous adipose tissue, Mandibular prognathia, Dental crowding, Hypopl... |
OMIM:617402 |
Craniofacial-Deafness-Hand Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Short nose |
OMIM:122880 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Joi... |
OMIM:139210 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Mandibular prognathia, Tented upper lip vermilion, Large for gestational age, Micrognathia, Hypop... |
ORPHA:96334 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Tooth malposition, Thin bony cortex |
OMIM:277600 |
Weill-Marchesani Syndrome 2 |
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Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate... |
OMIM:608328 |
Goldberg-Shprintzen Syndrome |
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Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtrum, Thick vermilion border... |
OMIM:609460 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Wide mouth, Long philtrum |
ORPHA:251061 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, High,... |
ORPHA:1101 |
Holoprosencephaly 9 |
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Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Cleft palate, Mult... |
ORPHA:50 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Flexion c... |
OMIM:263650 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Short dental root... |
OMIM:182250 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Wide nasal bridge, Cleft... |
ORPHA:306542 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Hiatus hernia, Cleft palate, Lipoma |
OMIM:304050 |
Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Hypoplasia of the maxilla, Flexion contracture, Osteoporosi... |
OMIM:259050 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... |
OMIM:614188 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion borde... |
ORPHA:920 |
Peters-Plus Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosynost... |
OMIM:261540 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Smooth philtrum, Failure to thrive in infancy, Sagittal craniosynostosis, Submucous cleft soft pa... |
ORPHA:500150 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hig... |
OMIM:614437 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia o... |
OMIM:129900 |
Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Radioulnar syno... |
OMIM:101400 |
Floating-Harbor Syndrome |
|
Small for gestational age, Persistence of primary teeth, Long nose, Hypoplasia of the maxilla, Ca... |
ORPHA:2044 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr... |
OMIM:180500 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... |
OMIM:604292 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Hypoplasia of the maxilla, Limited elbow extension, Delayed ossification of carpal ... |
OMIM:300106 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mou... |
OMIM:164210 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |