Disease Information for Neu Laxova Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Scaling/Skin finding
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital anomalies
Microcephaly/oligophrenia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Dystostosis/craniofacial (ex)
Definition

Neu Laxova Syndrome; NLS; Neu-Laxova syndrome (NLS) is a rare genetic disorder that is inherited as an autosomal recessive trait; The syndrome is characterized by severe growth delays before birth (intrauterine growth retardation); low birth weight and length; and distinctive abnormalities of the head and facial (craniofacial) region; These may include marked smallness of the head (microcephaly), sloping of the forehead, widely spaced eyes (ocular hypertelorism), and other malformations, resulting in a distinctive facial appearance; NLS is also typically characterized by abnormal accumulations of fluid in tissues throughout the body (generalized edema); permanent flexion and immobilization of multiple joints (flexion contractures); other limb malformations; and/or abnormalities of the brain, skin, genitals, kidneys, and/or heart----------[NORD]--------------

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External Links Related to Neu Laxova Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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