Rare Diseases

Williams syndrome is a rare developmental disorder that is present at birth (congenital). Williams syndrome may cause developmental and learning disabilities as well as physical problems, including heart, kidney, and blood vessel problems. Williams syndrome affects children differently. However, most children with Williams syndrome can live full and active lives with the right medical care …

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What is Zollinger-Ellison Syndrome Zollinger-Ellison syndrome is a rare clinical syndrome resulting from hypersecretion of the hormone gastrin by neuroendocrine tumors known as gastrinomas Key Points Zollinger-Ellison syndrome is characterized by refractory peptic ulcer disease, esophagitis, and secretory diarrhea Gastrinomas occur most commonly in the duodenum or pancreas and are malignant in 60% to 90% of …

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What is Autosomal recessive brachyolmia Autosomal recessive brachyolmia is a rare genetic disorder This condition is a skeletal disorder. Synonyms Brachyolmia, Hobaek/Toledo type Symptoms Stunted growth Short trunk Patyspondyly Longitudinal striations in the femoral neck  Peripheral punctuate corneal opacities

What is X linked intellectual disability short stature overweight syndrome X linked intellectual disability short stature overweight syndrome is a rare congenital disorder characterised by multiple congenital anomalies. Symptoms and Signs of X linked intellectual disability short stature overweight syndrome Common Symptoms and Signs (30%-79%) Behavioral abnormality Delayed speech and language development  High palate  Intellectual …

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What is Familial chylomicronemia syndrome (HLP type 1) Familial chylomicronemia syndrome is caused by the mutation in the lipoprotein lipase gene situated on the chromosome 8p21. Synonyms Lipoprotein Lipase Deficiency LPL Deficiency Familial Hyperchylomicronemia HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE HYPERLIPEMIA, ESSENTIAL FAMILIAL LIPASE D DEFICIENCY LIPD DEFICIENCY HYPERLIPOPROTEINEMIA, TYPE IA Symptoms and Signs of Familial chylomicronemia syndrome Mandatory Symptoms …

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What is Brachyolmia type 1 Toledo type BCYM1B This condition is a skeletal disorder which affects the spine in the body. Synonyms Spondyloepiphyseal Dysplasia Tarda, Toledo type SED, Chondroitin Sulfate Type PAPS- Chondroitin Sulfate Sulfotransferase Deficiency Symptoms and Signs Very Common Symptoms and Signs (80%-98%) Abnormality of the ribs  Corneal opacity  Mucopolysacchariduria  Platyspondyly  Short stature  Short thorax …

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What is Brachyolmia type 1 Hobaek type Brachyolmia type 1 Hobaek type are a group of skeletal disorders called dysplasias which primarily affects the spine. Symptoms and Signs of Brachyolmia type 1 Hobaek type Very Common Symptoms and Signs (80%-98%) Corneal opacity  Costal cartilage calcification  Enlarged vertebral pedicles  Increased vertebral height  Platyspondyly  Short stature  Short …

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