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Lujan—Fryns syndrome LFS is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus , referring to a group of physical characteristics similar to those found in Marfan syndrome. Intellectual disability in LFS usually ranges from mild to moderate, but severe cases have also been reported. Psychopathology and related behavioral abnormalities are typically seen in LFS, and they may be considered in the diagnosis of the disorder. While psychiatric conditions like these are to be expected with LFS, there have also been cases of the disorder with some preservation of mental and behavioral abilities, such as problem solving , reasoning and normal intelligence. The psychopathology of LFS usually exhibits schizophrenia. LFS is clinically distinguished from other X-linked forms of intellectual disability by the accompanying presence of marfanoid habitus. In LFS, specific features identified as marfanoid include: a long, narrow face; [5] [9] tall, thin stature ; [3] [9] long, slender limbs , fingers and toes not unlike arachnodactyly [3] [21] [22] with joint hyperextensibility , [17] shortened halluces the big toes and long second toes. The diagnosis of marfanoid habitus in LFS is often delayed because many of the physical features and characteristics associated with it are usually not evident until adolescence. Craniofacial and other features of LFS include: maxillary hypoplasia underdevelopment of the upper jaw bone , [9] a small mandible lower jaw bone and receding chin , [3] [17] a high-arched palate the roof of the mouth , with crowding and misalignment of the upper teeth ; [5] [7] macrocephaly enlarged skull with a prominent forehead , [3] [9] hypernasal speech voice , [5] [7] a long nose with a high, narrow nasal bridge ; [9] a deep, short philtrum the indentation in the upper lip, beneath the nose , [9] low-set ears with some apparent retroversion , [9] hypotonia decreased muscle tone , [3] pectus excavatum a malformity of the chest , [9] slightly enlarged to normal testicular size in males, [9] [17] and seizures. cris du chat syndrome.Not meaningful: Cris du chat syndrome
| MIDDLE AGE ERA | 562 |
| SILVER ORE REVELATION ONLINE | 3 hours ago · Little Hayden, born with two rare disorders, might be the first of his kind. His parents treasure his uniqueness. 4 hours ago · Detailed information on the different types of chromosome abnormality. 2 days ago · Pharos is the web interface for data collected by the Illuminating the Druggable Genome initiative. Target, disease and ligand information are collected and displayed. |
| GRIGNARD REACTION MECHANISM | Jehovah witness singles |
| Cris du chat syndrome | 918 |
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Reset Zoom. Submit Feedback. Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated.
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Click "Explore Associated Targets" to view more facets and details for the target list. DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced. Opens the Target List with this set of targets. Disease categories representing more general classifications of the current disease. Total count of associated targets, and a breakdown of syndrkme by Target Development Level is shown. Disease categories representing more specific classifications of the current disease.]
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