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Disease Profile
Menkes disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
E83.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Menkes syndrome; Steely hair disease; Menkea syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Menkes disease (MD) is an
Symptoms
- Progressive nervous system decline
Seizures - Kinky, light colored, easily breakable hair
- Low muscle tone (
hypotonia ) - Twisted blood vessels (arterial tortuosities)
- Characteristic facial features
- Bladder sacs or pouches (diverticula)
A milder form of the disease, called the occipital horn syndrome or
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 | ||
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |||
Dry skin | 0000958 | |||
Fatigue |
Tired
Tiredness
[ more ] |
0012378 | ||
Feeding difficulties in infancy | 0008872 | |||
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 | ||
Hypopigmentation of hair |
Loss of hair color
|
0005599 | ||
Inguinal hernia | 0000023 | |||
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 | ||
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |||
Muscular hypotonia |
Low or weak muscle tone
|
0001252 | ||
Pectus excavatum |
Funnel chest
|
0000767 | ||
Seizure | 0001250 | |||
Sparse hair | 0008070 | |||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |||
Umbilical hernia | 0001537 | |||
Vascular dilatation |
Wider than typical opening or gap
|
0002617 | ||
Woolly hair |
Kinked hair
|
0002224 | ||
30%-79% of people have these symptoms | ||||
Abnormal carotid artery morphology | 0005344 | |||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 | ||
Arterial stenosis |
Narrowing of an artery
|
0100545 | ||
Atypical scarring of skin |
Atypical scarring
|
0000987 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 | ||
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 | ||
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |||
Malabsorption |
Intestinal malabsorption
|
0002024 | ||
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 | ||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |||
Muscle weakness |
Muscular weakness
|
0001324 | ||
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 | ||
Nausea and vomiting | 0002017 | |||
Prolonged neonatal |
Prolonged yellowing of skin in newborn
|
0006579 | ||
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 | ||
Thickened skin |
Thick skin
|
0001072 | ||
Venous insufficiency |
Poorly functioning veins
|
0005293 | ||
Wormian bones |
Extra bones within cranial sutures
|
0002645 | ||
5%-29% of people have these symptoms | ||||
Bladder diverticulum | 0000015 | |||
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 | ||
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 | ||
Chorea | 0002072 | |||
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 | ||
Low blood sugar
|
0001943 | |||
Hypothermia |
Abnormally low body temperature
|
0002045 | ||
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | ||
Osteomyelitis |
Bone infection
|
0002754 | ||
0000939 | ||||
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 | ||
Sepsis |
Infection in blood stream
|
0100806 | ||
Spontaneous hematomas | 0007420 | |||
Tarsal synostosis |
Fused ankle bones
|
0008368 | ||
Percent of people who have these symptoms is not available through HPO | ||||
Abnormality of the face |
Abnormal face
Facial abnormality
[ more ] |
0000271 | ||
Brachycephaly |
Short and broad skull
|
0000248
Diagnosis Menkes disease is typically diagnosed based on the clinical features, medical examination, and
Testing Resources
Treatment There is no specific treatment for Menkes disease (MD). Some boys with MD respond to early treatment (started in the first weeks of life) with copper complexes (mainly copper-histidine). This treatment may prevent or slow nervous system damage, decrease the number of
Some of the specialists who might be involved in the care of someone with Menkes disease include:[1][2]
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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