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Menkes kinky-hair syndrome(MNK)

MedGen UID:
44030
Concept ID:
C0022716
Disease or Syndrome
Synonyms: Copper transport disease; Kinky hair disease; Menkes Disease; MNK
SNOMED CT: Steely hair syndrome (59178007); Menkes syndrome (59178007); Kinky hair disease (59178007); MK - Menkes syndrome (59178007); MNK - Menkes syndrome (59178007); Steely hair disease (59178007); Menke's kinky hair syndrome (59178007); Menkes kinky-hair syndrome (59178007); Menkes disease (59178007); Congenital hypocupremia (59178007); X-linked copper deficiency (59178007); Copper transport disease (59178007); Trichopoliodystrophy (59178007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): ATP7A (Xq21.1)
 
Monarch Initiative: MONDO:0010651
OMIM®: 309400
Orphanet: ORPHA565

Definition

Menkes disease (MNK) is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. [from OMIM]

Additional description

From MedlinePlus Genetics
Menkes syndrome is a disorder that affects copper levels in the body. It is characterized 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 characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.  https://medlineplus.gov/genetics/condition/menkes-syndrome

Clinical features

From HPO
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Epileptic spasm
MedGen UID:
315948
Concept ID:
C1527366
Disease or Syndrome
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Metaphyseal spurs
MedGen UID:
318762
Concept ID:
C1832988
Finding
Bony outgrowths that extend laterally from the margin of the metaphysis.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hypothermia
MedGen UID:
5720
Concept ID:
C0020672
Finding
Reduced body temperature due to failed thermoregulation.
Decreased circulating ceruloplasmin concentration
MedGen UID:
472980
Concept ID:
C0240997
Finding
Decreased concentration of ceruloplasmin in the blood.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
Wrinkled, redundant, inelastic and sagging skin.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMenkes kinky-hair syndrome
Follow this link to review classifications for Menkes kinky-hair syndrome in Orphanet.

Professional guidelines

PubMed

Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472
Hordyjewska A, Popiołek Ł, Kocot J
Biometals 2014 Aug;27(4):611-21. Epub 2014 Apr 20 doi: 10.1007/s10534-014-9736-5. PMID: 24748564Free PMC Article
Kaler SG, Tümer Z
Prenat Diagn 1998 Mar;18(3):287-9. PMID: 9556046

Curated

Tümer Z, Klomp L
Eur J Hum Genet 2011 Oct;19(10) Epub 2011 Apr 13 doi: 10.1038/ejhg.2011.56. PMID: 21487442Free PMC Article

Suggested Reading

PubMed

Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N
N Engl J Med 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613. PMID: 18256395Free PMC Article

Recent clinical studies

Therapy

Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472
Mercer JF, Camakaris J
Metallomics 2016 Sep 1;8(9):816-23. Epub 2016 Jul 11 doi: 10.1039/c6mt90022d. PMID: 27399171
Finner AM
Dermatol Clin 2013 Jan;31(1):167-72. Epub 2012 Oct 18 doi: 10.1016/j.det.2012.08.015. PMID: 23159185
Kaler SG
Adv Pediatr 1994;41:263-304. PMID: 7992686
Danks DM, Campbell PE, Walker-Smith J, Stevens BJ, Gillespie JM, Blomfield J, Turner B
Lancet 1972 May 20;1(7760):1100-2. doi: 10.1016/s0140-6736(72)91433-x. PMID: 4112576

Prognosis

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Mercer JF, Camakaris J
Metallomics 2016 Sep 1;8(9):816-23. Epub 2016 Jul 11 doi: 10.1039/c6mt90022d. PMID: 27399171
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Cox DW
Br Med Bull 1999;55(3):544-55. doi: 10.1258/0007142991902619. PMID: 10746345
Mercer JF
Am J Clin Nutr 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. PMID: 9587146

Clinical prediction guides

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Mercer JF, Camakaris J
Metallomics 2016 Sep 1;8(9):816-23. Epub 2016 Jul 11 doi: 10.1039/c6mt90022d. PMID: 27399171
Møller LB, Mogensen M, Horn N
Biochimie 2009 Oct;91(10):1273-7. Epub 2009 Jun 6 doi: 10.1016/j.biochi.2009.05.011. PMID: 19501626
Vulpe CD, Packman S
Annu Rev Nutr 1995;15:293-322. doi: 10.1146/annurev.nu.15.070195.001453. PMID: 8527222
Uitto J, Ryhänen L, Abraham PA, Perejda AJ
J Invest Dermatol 1982 Jul;79 Suppl 1:160s-168s. doi: 10.1111/1523-1747.ep12546063. PMID: 7086187

Recent systematic reviews

De Feyter S, Beyens A, Callewaert B
J Inherit Metab Dis 2023 Mar;46(2):163-173. Epub 2023 Feb 3 doi: 10.1002/jimd.12590. PMID: 36692329
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM
Mol Genet Metab 2019 Jan;126(1):6-13. Epub 2018 Dec 11 doi: 10.1016/j.ymgme.2018.12.005. PMID: 30594472
Verrotti A, Carelli A, Coppola G
J Child Neurol 2014 Dec;29(12):1757-64. Epub 2014 Jul 17 doi: 10.1177/0883073814541469. PMID: 25038123

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