5 Interesting Facts of Aarskog syndrome Most disease is caused by mutation in the FGD1 gene. Inheritance is X-linked recessive, and wide phenotypic variability is common among people with the syndrome Some manifestations overlap with Noonan syndrome, including similar dysmorphic facial features, short stature, chest deformity, cryptorchidism, delayed puberty, and possible mild cognitive deficiency Other distinct features …
LEOPARD syndrome Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome, an acronym for lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) 4 Interesting Facts of LEOPARD syndrome Syndrome is usually caused by specific PTPN11 mutations and less commonly by BRAF and RAF1 mutations Characteristics of syndrome include lentigines, ocular hypertelorism, cardiac conduction …
5 Interesting Facts of Costello syndrome Caused by de novo heterozygous mutation in the HRAS gene; autosomal dominant inheritance may occur Some phenotypic manifestations include similar coarse facial dysmorphology as noted in patients with Noonan syndrome, short stature, ulnar deviation at wrist, developmental delay, cardiac abnormalities (eg, pulmonic stenosis, hypertrophic cardiomyopathy), and intellectual disability Although significant phenotypic …
5 Interesting Facts of Cardiofaciocutaneous syndrome Most commonly caused by heterozygous mutation involving the BRAF gene Also may be caused by gain-of-function mutations in KRAS, MEK1, or MEK2 genes Some phenotypic manifestations closely resemble Noonan phenotype, such as dysmorphic facial features, cardiac defects (pulmonic stenosis, septal defects, hypertrophic cardiomyopathy), and intellectual disability Some subtle phenotypic differences in manifestations: Blue eyes are …
Iatrogenic botulism Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
Alcock canal syndrome (Pudendal nerve entrapment syndrome) Alcock canal syndrome is a rare medical condition Most commonly this disease is associated with dysfunction of the pelvis This disease is an acquired peripheral neuropathy disease Alcock canal syndrome is a rare entrapment neuropathy of the pudendal nerve. Cardinal Features of this condition Neuropathic Pain which is …
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Morvan syndrome Morvan syndrome is a rare medical condition life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Synonyms of Morvan syndrome Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome Morvan fibrillary chorea Prevalence <1 / 1000000 Age of onset Adults Symptoms and Signs of Morvan syndrome Symptoms resulting from the autonomic nervous system involvement blood …