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Menkes syndrome

עודכן לאחרונה 7 Apr 2021

עומד בהנחיות העריכה של Patient

Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.

תיאור

Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.

Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterised by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.

Inheritance patterns

The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.

Related genes

Other names

Copper transport disease

Hypocupremia, congenital

Kinky hair syndrome

Menkea syndrome

Menkes disease

MK

MNK

Steely hair syndrome

X-linked copper deficiency

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  • 7 Apr 2021 | הגרסה האחרונה
  • 1 Mar 2009 | פורסם במקור

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