Anemia, and Arthrogryposis multiplex congenita

Diseases related with Anemia and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Anemia and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.

Top matches:

Other less relevant matches:

Top 5 symptoms//phenotypes associated to Anemia and Arthrogryposis multiplex congenita

Symptoms // Phenotype	% cases
Hepatomegaly	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Respiratory insufficiency	Common - Between 50% and 80% cases
Global developmental delay	Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Anemia and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Growth delay Muscular hypotonia Diarrhea Generalized hypotonia Hearing impairment Ventriculomegaly Feeding difficulties Distal arthrogryposis Cerebral atrophy Thrombocytopenia Recurrent infections Abnormality of the liver Short neck Short stature Jaundice Abnormal bleeding Abnormality of the pinna Cardiomyopathy Renal insufficiency Elevated hepatic transaminase Areflexia Hepatosplenomegaly Intrauterine growth retardation Malabsorption Splenomegaly Neonatal hypotonia Congestive heart failure Cholestasis Hip dysplasia Skeletal muscle atrophy Fever Immunodeficiency Hypertension Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases

Abnormal cardiac septum morphology Hypertonia Gingival overgrowth Hyperreflexia Dysphagia Anteverted nares Respiratory distress Steatorrhea Hyperglycemia Portal hypertension Adducted thumb Chronic diarrhea Generalized myoclonic seizures Abnormality of the renal tubule Reduced tendon reflexes Renal tubular dysfunction Constipation Low-set, posteriorly rotated ears Postural instability Weight loss Narrow mouth Apnea Abnormal facial shape Epicanthus Abnormality of retinal pigmentation Depressed nasal bridge Coma Abnormal T cell morphology Neurodevelopmental delay Retrognathia Decreased antibody level in blood Polyhydramnios Hyperkeratosis Hypertrophic cardiomyopathy Proximal tubulopathy Decreased fetal movement Proteinuria Vomiting Generalized tonic-clonic seizures Cardiorespiratory arrest Polyneuropathy Dehydration Abnormal heart morphology Abnormality of immune system physiology EEG abnormality Abnormality of the skeletal system Pancytopenia Micrognathia Hypertelorism Cerebellar atrophy Strabismus Talipes equinovarus Muscle weakness Delayed skeletal maturation Hypoplasia of the corpus callosum Hepatic steatosis Lactic acidosis Cerebral calcification Lethargy Acidosis Myoclonus Flexion contracture Encephalopathy Myopathy Peripheral neuropathy Increased serum lactate Depressed nasal ridge Motor delay Heart block Purpura Bilateral ptosis Abnormality of the face Cardiomegaly Macrotia Hyperhidrosis Arrhythmia Delayed myelination Hyporeflexia Breech presentation Chronic kidney disease Diabetes mellitus Lymphopenia Increased CSF lactate Hyperkalemia Developmental regression Ichthyosis Hyponatremia Visual impairment Cognitive impairment Sensorineural hearing impairment Ptosis Low-set ears Hirsutism Hallucinations Cerebral visual impairment Pancreatitis Clonus Cardiac arrest Generalized hirsutism Truncal ataxia EMG abnormality Macular degeneration Muscle cramps Hypogonadotrophic hypogonadism Nephropathy Type I diabetes mellitus Exercise intolerance Status epilepticus Decreased body weight Anorexia Atrial fibrillation Memory impairment Migraine Type II diabetes mellitus Psychosis Nephrotic syndrome Bilateral sensorineural hearing impairment Sensory impairment Generalized-onset seizure Ventricular hypertrophy Specific learning disability Abnormal cerebellum morphology Abnormality of the cardiovascular system Pigmentary retinopathy Hemiparesis Amenorrhea Hypertrichosis Sudden cardiac death Involuntary movements Pulmonary arterial hypertension Left ventricular hypertrophy Polymicrogyria Erythema Nausea Ataxia Depressivity Headache Kyphosis Dystonia Abnormality of the dentition Blindness Fatigue Gait disturbance Tremor Optic atrophy Dysarthria Cataract Pain Nystagmus Pulmonary lymphoma Elevated serum creatine phosphokinase Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Visual loss Cerebellar hypoplasia Peripheral axonal neuropathy Attention deficit hyperactivity disorder Vertigo Confusion Paresthesia Dysmetria Anal atresia Delayed puberty Nausea and vomiting Carious teeth Congenital cataract Ophthalmoplegia Pruritus Dilated cardiomyopathy Neurological speech impairment Stroke Nyctalopia Rod-cone dystrophy Hypothyroidism Dementia Osteoporosis Hypogonadism Abdominal pain Gait ataxia Autism Dyspnea Protruding ear Gastroesophageal reflux Photophobia Myalgia Anxiety Mental deterioration Feeding difficulties in infancy External ophthalmoplegia Thyroiditis Ragged-red muscle fibers Leber optic atrophy Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Persistence of primary teeth Abnormal mitochondrial morphology Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Hemianopia Ileus Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Paronychia Edema of the dorsum of hands Anterior hypopituitarism Insulin resistance Prolonged partial thromboplastin time Autoimmunity Elevated hemoglobin A1c Abnormality of the pancreatic islet cells Contractures of the joints of the lower limbs Transient neonatal diabetes mellitus Hypovolemia Abnormality of the upper urinary tract Autoimmune antibody positivity Ketonuria Maternal diabetes Prominent metopic ridge Glycosuria Apraxia Cochlear malformation Downturned corners of mouth Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Stroke-like episode Gait imbalance Ischemic stroke Ophthalmoparesis Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Abnormality of mitochondrial metabolism Visual field defect Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Dysphasia Prolonged QT interval Reduced consciousness/confusion Vitiligo Cerebral ischemia Wolff-Parkinson-White syndrome Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Neonatal hypoglycemia Multiple lipomas Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Pulmonary embolism Primary adrenal insufficiency Abnormal bone ossification Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Abnormally ossified vertebrae Abnormal form of the vertebral bodies Neonatal short-limb short stature Focal-onset seizure Type II transferrin isoform profile Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Inflammation of the large intestine Abnormal intestine morphology Hyperbilirubinemia Hypohidrosis Postaxial polydactyly High palate Cirrhosis Muscular hypotonia of the trunk Aggressive behavior Polydactyly Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Inverted nipples Protruding tongue Thick vermilion border Flat face Behavioral abnormality Spasticity Edema Abnormality of globe location Interphalangeal joint contracture of finger Akinesia Apathy Pleural effusion Congenital contracture Ectropion Intracranial hemorrhage Poor suck Knee flexion contracture Hydrops fetalis Thickened skin Open mouth Progressive neurologic deterioration Oligohydramnios Short nose Underdeveloped nasal alae Premature birth Triangular face Ascites Metabolic acidosis Everted lower lip vermilion High, narrow palate Pulmonary hypoplasia Hepatic failure Abnormality of eye movement Microtia Camptodactyly Proptosis Increased urinary sedoheptulose Neonatal asphyxia Multiple joint contractures Increased antibody level in blood Renal cyst Abnormality of the foot Respiratory failure Absent speech Abnormality of the Leydig cells Clubbing of toes Erythema nodosum Clubbing of fingers Episodic fever Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Right bundle branch block Renal hypoplasia Hyperostosis Lipodystrophy Subcutaneous nodule Thick lower lip vermilion Prominent nose Macroglossia Lymphadenopathy Arachnodactyly Skin rash Abnormal pyramidal sign Joint stiffness Arthralgia Intellectual disability, mild Epileptic encephalopathy Pachygyria Abnormal CNS myelination Hepatitis Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Hypochromic microcytic anemia Cholestatic liver disease Recurrent hypoglycemia Diastasis recti Severe postnatal growth retardation Shallow orbits Arnold-Chiari malformation Large fontanelles Hypotelorism Short foot Renal dysplasia Prominent nasal bridge High forehead Inguinal hernia Macrocephaly Microvesicular hepatic steatosis Tongue fasciculations Hypoventilation Renal tubular acidosis Failure to thrive in infancy CNS hypomyelination Severe muscular hypotonia Fasciculations Decreased liver function Neonatal respiratory distress Thoracic hypoplasia Congenital hypoplastic anemia Disproportionate short-limb short stature Abnormality of the hip bone Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Genu varum Abnormality of pelvic girdle bone morphology Sacral dimple Metaphyseal dysplasia Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Rhizomelia Abnormality of epiphysis morphology Bronchiectasis Aganglionic megacolon Bowing of the long bones Abnormality of the metaphysis High hypermetropia Macrocytic anemia Blue sclerae Aplasia/Hypoplasia affecting the eye Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia of the abdominal wall musculature Hodgkin lymphoma Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Fine hair Lumbar hyperlordosis Abnormality of coagulation Generalized hyperkeratosis Abnormality of the microglia Hydropic placenta Low voltage EEG Abnormality of the small intestine Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Everted upper lip vermilion Mild fetal ventriculomegaly Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Congenital ichthyosiform erythroderma Hypokinesia Petechiae Opisthotonus Enlarged fetal cisterna magna Scoliosis Abnormality of the ribs Leukemia Convex nasal ridge Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Neutropenia Small hand Short palm Joint hypermobility Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Pectus carinatum Neoplasm Sparse hair Hyperlordosis Joint laxity Carcinoma Skeletal dysplasia Brachycephaly Prominent forehead Severe short stature Pneumonia Alopecia Dilatation Myopia Wide nasal bridge Graves disease

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