Disease Comparison Results (show differences mode) for Beckwith-Wiedemann Syndrome and Hypogammaglobulinemia, cong. X-linked

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Hypogammaglobulinemia, cong. X-linked

Found: 42 | Differences: 32

Beckwith-Wiedemann Syndrome

Found: 217 | Differences: 207

Beckwith-Wiedemann Syndrome and Hypogammaglobulinemia, cong. X-linked sharing 10 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms
Acute Diarrhea
Acute Diarrhea in Children
Chronic Diarrhea in a Child
Diarrhea
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Diarrhea, recurrent
Recurrent chest infections/bronchitis/sign
Disease Progression
Onset/Six months
Demographics & Risk Factors
Family History
Family history/Immune defects
Laboratory Tests
Microbiology & Serology Findings
Common vaccination antibodies absent/low
Abnormal Lab Findings (Non Measured)
Cytogenetics Abnormal
Absent/Low B-cells on Flow Cytometry
Flow cytometry tests/abnormal (Lab)
Abnormal Lab Findings - Decreased
Gamma globulin (Lab)
IGG/Immunoglobulin G (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications - Rule Outs
Cystic fibrosis (mucoviscidosis)
Associated Disease & Complications - Causes
Hypogammaglobulinemia
Hypogammaglobulinemia, acquired
Immunodeficiency
Infections
Lymphoblastic leukemia/acute
Disease Mechanism & Classification
Class
CLASS/Humoral Immune System Disorder (ex)
CLASS/Hematologic (category)
CLASS/Spleen/thymus/RES/immune system (category)
Pathophysiology
Pathophysiology/Infection resistant to usual treatments
Pathophysiology/Proteins/blood disorder (ex)
Pathophysiology/Poor immune resp/encapsulated bacteria
Pathophysiology/Poor slow recovery/ bacteria infection
Process
PROCESS/Immunodeficiency disorder/Primary
Treatment
Drug Therapy
RX/Gamma globulin/prophylaxis/low dose
Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Macrosomia
Facial Asymmetry
Facial hemihypertrophy
Sunken Cheek Bones
Accessory nipples
Cardiomegaly/Heart dilatation
Port wine Stain Birthmark
Accelerated growth Child
Increased body length/newborn
Large baby/birth weight increased
Genitalia overgrowth/infant
Abdominal Mass
Abdominal Wall Defects
Everted umbilicus/prominent
Lax abdominal muscles
Hypoplasia Narrow Maxilla
Large tongue/macroglossia
Oral submucosal clefts
Tongue Protrudes Infant
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Intelligence normal
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive enlargement of Skull/infant
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Difficulty learning/school/workplace
Asymmetric Limbs
Cranial sutures ridging
Finger contractions/flexion (clinodactyly)
Metopic sutures hypoplastic ridging
Sternum deformities
Tall child
Snoring
Splenomegaly
Dysmorphic appearance/face
Lateral Asymmetry
Tall Adult
Eyelid Retraction
Proptosis,bilateral
Asymmetric earlobes
Characteristic ear lobe crease
Ear lobe crease/Emperor Hadrian sign
Pits in Pinna/Congenital
Clinical Presentation & Variations
Presentation/Omphalocele Macroglossia Large neonate Hypoglycemia
Disease Progression
Course/Prognosis bad/usually
Course/Untreated mortality high
Demographics & Risk Factors
Population Group
Infant
Sex & Age Groups
Population/Infant
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Insulin C-Peptide type, serum (Lab)
Insulin level (Lab)
Proinsulin
Diagnostic Test Results
Pathology
PATH/Adrenocortical cytomegaly/hyperplasia
PATH/Testis Interstitial/Leydig hyperplasia
PATH/Pancreatic biopsy/Abnormal
PATH/Pancreatic islet cell hypertrophy/macrocytosis
PATH/Kidney dysplasia renal medulla
PATH/Visceromegaly
X-RAY
Xray/Large heart shadow/Chest
Xray/Soft tissue lateral neck/large tongue
Xray/Delayed fontanelle closure
Xray/Advanced bone age/child/adolescent
Xray/Advanced bone age/newborn
X-RAY With contrast
IVP/Bilateral large kidneys
Ultrasound
Ultrasound/Renal/Kidneys enlarged/symmetrical
Associated Diseases & Rule outs
Associated Disease & Complications
Acute respiratory failure/Respiratory arrest
Anal Atresia
Apnea, episodic
Atrial septal defect
Beckwith-Wiedemann syndrome
Cancer/malignancy
Carcinoid tumor of gut
Carcinoma, adrenal cortex
Carcinoma, hepatocellular
Childhood malignancy
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
CNS disease/involvement
Cognitive/learning disability
Colon atresia
Congenital diaphragmatic hernia
Congenital heart disease
Congenital urinary tract malformations
Cryptorchidism
Deafness, conduction type
Deafness, congenital
Encephalopathy, hypoglycemia
Encephalopathy/CNS effect
Exophthalmos
Gigantism
Glioblastoma/CNS
Gut Anomalies
Hemihypertrophy
Hepatoblastoma
Hip dislocation, congenital
Hydrocephalus
Hypercholesterolemia
Hypocalcemia
Hypoglycemia
Hypoglycemia, infantile
Hypoplasia left heart
Hypospadius anomaly
Ileal stenosis
Imperforate anus
Intestine malrotation
Liver Tumor
Lymphoma, non-Hodgkins type
Medullary sponge kidney disease
Meningoencephalocele
Meningomyelocele
Mental retardation
Microcephaly/oligophrenia
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Neuroblastoma
Obesity
Obesity in Children
Obstructive sleep apnea/Children
Omphalocele
Organomegaly
Patent ductus arteriosis
Pectus carinatum/pigeon chest
Pectus excavatum
Plethora of newborn
Polycythemia rubra vera/infant
Polydactyly/Supernumery digits
Port wine nevus/Nevus flammeus/facial
Pulmonary artery branch/stenosis
Pyloric stenosis, cong. hypertrophic
Renal anomalies
Rhabdomyosarcoma
Rhabdomyosarcoma/muscle/extremity
Subdural hematoma
Teratoma
Tetralogy of Fallot
Umbilibal Anomalies
Umbilical hernia
Uterus Didelphus/Bicornuate
Ventricular septal defect
Wilms tumor/nephroblastoma
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Multisystem/organ involvement/pathology (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Chromosome gene locus 11 (11p15) region
Pathophysiology/Dominant inheritance kindred/variety
Pathophysiology/Gene locus 11p15.5
Pathophysiology/Gene locus 5q35.3
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Human p57(KIP2)at 11p15.5 involved
Pathophysiology/IGF2 (insulin-like growth factor II) gene involved
Pathophysiology/Intractable neonatal hypoglycemia
Pathophysiology/Pre-cancerous condition
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Leydig cell hypertrophy child
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Constitutional/essential disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Synonym/Beckwith syndrome
Synonym/BWS (syndrome)
Synonym/EMG Syndrome
Synonym/Exomphalos-macroglosia-gigantism/EMG
Synonym/Exomphalos-macroglossia-gigantism syndrome
Synonym/Hypoglycemia with macroglossia syndrome
Synonym/Macroglossia-omphalocele-visceromegaly syndrome
Synonym/Omphalocele-visceromegaly-macroglossia syndrome
Synonym/Visceromegaly-umbilical hernia-macroglossia syndrome
Synonym/Wiedemann II syndrome
Synonym/Wiedmann-Beckwith syndrome
Treatment
Drug Therapy
RX/Glucose
Other Treatments
TX/Constitutional/No definitive treatment
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