Rare Diseases

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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What is Pseudohypoparathyroidism type 1A (PHP1A) Pseudohypoparathyroidism type 1A (PHP1a) is a rare hormonal disorder. Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism occurs when your body is unable to respond to parathyroid hormone, a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. What is the prevalence? The …

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What is Mental Retardation X Linked 12 ( MRX12 ) (MRX35) Mental Retardation X Linked 12 is a rare genetic disorder due to a mutation in THOC2 Synonyms X-linked intellectual disability, Gu type MRX35 MRX12 Inheritance This condition is X linked recessive inheritance Etiology This condition is caused by mutation in the THO complex, subunit …

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What is Acute Bilineal Leukemia (ABL) Acute Bilineal Leukemia Is a Very Rare disorder This condition is prevalent in Childhood. It accounts for less than 0.3 % of all acute leukemia cases. Surprisingly, the same genetic changes can be identified in both clonal populations making the “true” ABL even rarer. FC in combination with morphology …

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