Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion |
OMIM:619462 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Hydrops fetalis |
ORPHA:295 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Neonatal death, Nonimmu... |
OMIM:620014 |
Achondrogenesis, Type Ib |
|
Umbilical hernia, Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
Placental Insufficiency |
|
Small placenta, Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology |
ORPHA:439167 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Neonatal death |
OMIM:276822 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth |
OMIM:215045 |
Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... |
ORPHA:1041 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Hydrops fetalis, Polyhydramnios, Premature birth |
ORPHA:2123 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia |
ORPHA:932 |
Sialidosis Type 2 |
|
Ascites, Hydrops fetalis, Pedal edema, Umbilical hernia |
ORPHA:87876 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hydrops fetalis |
OMIM:619433 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hydrops fetalis, Pleural effusion, Chylopericardium |
ORPHA:2414 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia |
ORPHA:93298 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death |
OMIM:619003 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Oligohydramnios, Hydrops fetalis |
ORPHA:163596 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold, Umbilical hernia |
ORPHA:93299 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis |
OMIM:618815 |
Congenital Heart Block |
|
Oligohydramnios, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Pericardial e... |
ORPHA:60041 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
OMIM:608540 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Neonatal death, Fetal akinesia sequence, Stillbirth, Hydrops fetalis |
ORPHA:85212 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis |
OMIM:153100 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis |
ORPHA:69735 |
Transaldolase Deficiency |
|
Hydrops fetalis, Edema |
ORPHA:101028 |
Infantile Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Premature birth |
OMIM:269920 |
Glycogen Storage Disease Iv |
|
Ascites, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:232500 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios |
ORPHA:397590 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254534 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
Congenital Enterovirus Infection |
|
Fetal ascites, Fetal distress, Pleural effusion, Decreased fetal movement, Polyhydramnios, Hydrop... |
ORPHA:292 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis |
ORPHA:834 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Fetal skin edema, Decreased fetal movement, Pericardial effusion, Hydrops fetalis |
OMIM:608776 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Neuraminidase Deficiency |
|
Ascites, Hydrops fetalis, Facial edema |
OMIM:256550 |
Mulibrey Nanism |
|
Ascites, Hydrops fetalis |
OMIM:253250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death |
OMIM:618839 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
Alg8-Cdg |
|
Ascites, Oligohydramnios, Hydrops fetalis, Edema, Premature birth |
ORPHA:79325 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
Fetal Akinesia Deformation Sequence 1 |
|
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... |
OMIM:208150 |
Klippel-Trénaunay Syndrome |
|
Ascites, Hydrops fetalis, Edema |
ORPHA:90308 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Lymphedema, Hydrops fetalis, Umbilical hernia |
ORPHA:584 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Fetal pleural effusion, Nonimmune hydrops fetalis, Neonatal death |
OMIM:620167 |
Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Neonatal death, Singl... |
OMIM:620244 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ascites, Fetal pericardial effusion, Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:617021 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Umbilical hernia, Nonimmune hydrops fetalis, Stillbirth |
OMIM:269250 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Hydrops fetalis, Encephalocele, Single umbilical artery |
ORPHA:1865 |
Alpha-Thalassemia |
|
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion |
ORPHA:846 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency |
ORPHA:261344 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Nonimmune hydrops fetalis |
OMIM:617049 |
Trisomy 13 |
|
Hydrops fetalis |
ORPHA:3378 |
Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... |
OMIM:617667 |
Achondrogenesis, Type Ia |
|
Absence of stomach bubble on fetal sonography, Increased nuchal translucency, Stillbirth, Polyhyd... |
OMIM:200600 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Fetal akinesia sequence, Polyhydramnios, Nonimmune hydrops fetalis |
ORPHA:367 |
Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Decreased fetal movemen... |
OMIM:256520 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis |
OMIM:618265 |
Greenberg Dysplasia |
|
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... |
OMIM:215140 |
Gaucher Disease, Perinatal Lethal |
|
Desquamation of skin soon after birth, Ascites, Decreased fetal movement, Nonimmune hydrops fetal... |
OMIM:608013 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hydrops fetalis, Abnormality of the amniotic fluid |
OMIM:609015 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis |
OMIM:618052 |
Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Nonimmune hydrops fetalis |
OMIM:620609 |
Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Galactosialidosis |
|
Nonimmune hydrops fetalis |
OMIM:256540 |
Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Oligohydramnios, Hydrops fetalis |
OMIM:617022 |
Mosaic Trisomy 9 |
|
Oligohydramnios, Spina bifida, Single umbilical artery, Polyhydramnios, Hydrops fetalis |
ORPHA:99776 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
Gm1 Gangliosidosis |
|
Hydrops fetalis, Premature birth |
ORPHA:354 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Stillbirth |
OMIM:228520 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:619313 |
Restrictive Dermopathy |
|
Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver... |
ORPHA:1662 |
Congenital Syphilis |
|
Large placenta, Hydrops fetalis, Premature birth |
ORPHA:499009 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis |
ORPHA:88618 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Farber Disease |
|
Ascites, Hydrops fetalis, Joint swelling |
ORPHA:333 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal placenta morphology, Hydrops fetalis |
ORPHA:79255 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254528 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Umbilical hernia, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Spi... |
OMIM:235510 |
Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis |
OMIM:230500 |
Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Umbilical hernia |
OMIM:253220 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
Congenital Myopathy 22B, Severe Fetal |
|
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... |
OMIM:620369 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Anencephaly, Occipital meningocele |
OMIM:616546 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth |
OMIM:602522 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
OMIM:212065 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Large placenta, Premature birth |
ORPHA:254519 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hydrops fetalis, Decreased fetal movement, Umbilical hernia |
OMIM:265000 |
Alg9-Cdg |
|
Oligohydramnios, Decreased fetal movement, Thickened nuchal skin fold, Pericardial effusion, Hydr... |
ORPHA:79328 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Mgat2-Cdg |
|
Hydrops fetalis |
ORPHA:79329 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Hydrops fetalis, Premature birth |
ORPHA:50945 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Polyhydramnios, Hydrops fetalis |
OMIM:300868 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord |
OMIM:222470 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cerebral edema, Hydranencephaly, Hydrops fetalis |
OMIM:620371 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis |
OMIM:613673 |
Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis |
ORPHA:268249 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis |
ORPHA:2879 |
Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth |
ORPHA:1708 |
Restrictive Dermopathy 1 |
|
Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy... |
OMIM:275210 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Gaucher Disease Type 3 |
|
Pericardial effusion, Hydrops fetalis |
ORPHA:77261 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis |
OMIM:263520 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis |
OMIM:613610 |
Pearson Syndrome |
|
Corneal stromal edema, Hydrops fetalis, Dehydration |
ORPHA:699 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Periorbital edema, Hydrops fetalis, Premature birth |
OMIM:620376 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Large placenta, Oligohydramnios, Breech presentation, Single umbilical a... |
OMIM:249000 |
Noonan Syndrome 2 |
|
Polyhydramnios, Increased nuchal translucency, Nonimmune hydrops fetalis |
OMIM:605275 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis |
ORPHA:3261 |
Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Edema |
OMIM:212093 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pleural effusion, Nonimmune hydrops fetalis, Neonatal death, Single umbilical artery, Thickened n... |
OMIM:265380 |
Niemann-Pick Disease Type C |
|
Ascites, Fetal ascites, Hydrops fetalis |
ORPHA:646 |
Hepatoerythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:95159 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency |
ORPHA:3472 |
Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Umbilical hernia, Large placenta, Polyhydramnios, Premature birth |
ORPHA:116 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large placenta, Spinal dysraphism, Polyhydramnios, Premature birth |
ORPHA:96334 |
Gaucher Disease |
|
Hydrops fetalis |
ORPHA:355 |
Generalized Arterial Calcification Of Infancy |
|
Fetal distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema |
ORPHA:51608 |
Congenital Erythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:79277 |
Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis |
ORPHA:124 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Premature birth |
OMIM:216340 |