Placental Insufficiency |
|
Abnormal placenta morphology, Small placenta, Proportionate short stature, Abnormal umbilical cor... |
ORPHA:439167 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Postnatal growth retardation, Small placenta, Severe postnatal growth retardation, Severe intraut... |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Small placenta, Intrauterine growth retardation, Oligohydramnios, S... |
ORPHA:397590 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Postnatal growth retardation, Decreased fetal movement, Severe intrauterine growth retardation, S... |
ORPHA:231144 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Umbilica... |
ORPHA:254534 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Failure to thrive, Pallor |
OMIM:613561 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Increased nuchal translucency, ... |
OMIM:208150 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Congenital Heart Block |
|
Hydrops fetalis, Premature birth, Intrauterine growth retardation, Pallor, Oligohydramnios, Vagin... |
ORPHA:60041 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Large placenta, Polyhydramnios, Redundant neck skin, Umbilical hern... |
ORPHA:254528 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Restrictive Dermopathy |
|
Scaling skin, Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Premature bir... |
ORPHA:1662 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Increased body weight |
ORPHA:276608 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Pallor, Short stature |
OMIM:615631 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifida, ... |
OMIM:256520 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Failure to thrive, Pallor |
OMIM:611590 |
Congenital Syphilis |
|
Palmoplantar scaling skin, Large placenta, Hydrops fetalis, Purpura, Petechiae, Premature birth, ... |
ORPHA:499009 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Decreased body weight, Short stature |
OMIM:609053 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Pallor, Small for gestational age |
ORPHA:324575 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Failure to thrive, Pallor, Growth delay |
OMIM:600462 |
Mosaic Trisomy 16 |
|
Single umbilical artery, Large placenta, Premature birth, Intrauterine growth retardation, Small ... |
ORPHA:1708 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Pallor |
ORPHA:276556 |
Kagami-Ogata Syndrome |
|
Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Prematur... |
ORPHA:254519 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Pallor |
ORPHA:276575 |
Trichohepatoenteric Syndrome 1 |
|
Large placenta, Polyhydramnios, Short stature, Failure to thrive, Abnormalities of placenta or um... |
OMIM:222470 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Pallor |
ORPHA:276580 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Pallor |
ORPHA:536516 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Primary Myelofibrosis |
|
Purpura, Petechiae, Cachexia, Ecchymosis, Pallor |
ORPHA:824 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Pallor, Weight loss, Short stature |
OMIM:301310 |
Non-Functioning Paraganglioma |
|
Pallor, Weight loss |
ORPHA:94080 |
Greenberg Dysplasia |
|
Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Rhizomelia, Disproportionate short-l... |
OMIM:215140 |
Restrictive Dermopathy 1 |
|
Scaling skin, Short umbilical cord, Stillbirth, Polyhydramnios, Premature birth, Neonatal death, ... |
OMIM:275210 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Weight loss |
ORPHA:3226 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Pallor |
ORPHA:99931 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Pallor, Increased body weight |
ORPHA:263455 |
Sepsis In Premature Infants |
|
Purpura, Petechiae, Decreased body weight, Caesarian section, Premature birth, Pallor, Small for ... |
ORPHA:90051 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Pallor, Growth delay |
OMIM:617675 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Dominant Beta-Thalassemia |
|
Delayed puberty, Skin ulcer, Growth delay, Failure to thrive in infancy, Pallor |
ORPHA:231226 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Pallor |
ORPHA:98870 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Redundan... |
ORPHA:96334 |
Beta-Thalassemia Major |
|
Delayed puberty, Skin ulcer, Growth delay, Failure to thrive in infancy, Pallor |
ORPHA:231214 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pallor |
ORPHA:90045 |
Meckel Syndrome, Type 1 |
|
Single umbilical artery, Occipital encephalocele, Large placenta, Breech presentation, Anencephal... |
OMIM:249000 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Diamond-Blackfan Anemia 1 |
|
Spina bifida occulta, Short stature, Failure to thrive, Premature birth, Intrauterine growth reta... |
OMIM:105650 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor, Small for gestational age, Short stature |
OMIM:227645 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Weight loss |
ORPHA:276621 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Beta-Ketothiolase Deficiency |
|
Pallor, Weight loss |
ORPHA:134 |
Fumarase Deficiency |
|
Failure to thrive, Bilateral fetal pyelectasis, Polyhydramnios, Pallor |
OMIM:606812 |
Esophageal Atresia |
|
Polyhydramnios, Growth delay, Absence of stomach bubble on fetal sonography, Failure to thrive in... |
ORPHA:1199 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Large for gestational age, Large placenta, Polyhydramnios, Redundant sk... |
ORPHA:116 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Weight loss |
ORPHA:20 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Failure to thrive, Pallor, Small for gestational age, Erythema |
OMIM:557000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Weight loss |
ORPHA:29072 |
Degcags Syndrome |
|
Single umbilical artery, Polyhydramnios, Breech presentation, Failure to thrive, Premature birth,... |
OMIM:619488 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Pallor, Small for gestational age |
OMIM:277400 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Small for gestational age |
OMIM:600901 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Weight loss |
ORPHA:98849 |
Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Incontinentia Pigmenti |
|
Short stature, Pallor, Erythema |
OMIM:308300 |
Sheehan Syndrome |
|
Pallor, Dry skin, Obesity |
ORPHA:91355 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Small for gestational age |
OMIM:227650 |
Waldenström Macroglobulinemia |
|
Purpura, Pallor |
ORPHA:33226 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Pallor |
ORPHA:2131 |
Diamond-Blackfan Anemia |
|
Short stature, Growth delay, Nonimmune hydrops fetalis, Pallor, Small for gestational age |
ORPHA:124 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Neuroblastoma |
|
Anemic pallor, Weight loss |
ORPHA:635 |
Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Pallor, Weight loss |
ORPHA:91347 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Pallor |
ORPHA:137675 |
Fanconi Anemia, Complementation Group D2 |
|
Short stature, Anemic pallor, Small for gestational age |
OMIM:227646 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Pallor |
ORPHA:3260 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pallor |
ORPHA:667 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Weight loss |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor, Low 5-minute APGAR score, Low 1-minute APGAR score |
ORPHA:99125 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Delayed puberty, Abdominal obesity, Striae distensae, Short stature |
OMIM:300354 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Cachexia, Obesity |
ORPHA:85293 |