Overview A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities.
[checkorphan.org]
Curly/kinky hair is present at birth in around 80% of patients, but around half of these patients loose the hair phenotype by adolescence.
[rarediseases.info.nih.gov]
It is characterized by curly and kinky hair at infancy that later straightens, absent mineralization of dental enamel, taurodontism and dental hypoplasia.
[ipfs.io]
[…] more, well circumscribed areas of curly/kinky hair on the scalp in a non-black individual.
[jemds.com]
The three most common forms are wooly hair nevus, which is a condition where kinky hair grows in one or more clearly defined areas of the scalp apart from non-curly hair;
[wisegeek.com]
Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure
[jamanetwork.com]
Menkes kinky hair disease (Menkes syndrome). Acta dermatovenerologica Alpina, Panonnica et Adriatica, volume 15, issue 3, str. 126-130.
[dlib.si]
Stevens, Valerie Mayne and Elizabeth Cartwright Pediatrics August 1972, 50 (2) 188-201; Abstract Seven new cases of Menkes's kinky hair syndrome are described from five families
[pediatrics.aappublications.org]
MNK is characterized by kinky hair, growth failure, and deterioration of the nervous system.
[icd.codes]
Problems are similar to Menke’s kinky hair disease. No treatment is readily available.
[pediatriceducation.org]
Menkes (Kinky Hair) Disease. nd. 4pp. www.icondata.com/health/pedbase/files/MENKES(K.HTM Cordier-Alex M-P. Menkes disease.
[rarediseases.org]
[…] by year, and whether "Menkes Kinky Hair Syndrome" was a major or minor topic of these publications.
[profiles.umassmed.edu]
Menkes’s kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics. 1972 ; 50 : 188 – 201. 9. Alfred, JW, Aulino, J.
[journals.cambridge.org]
"Menkes Kinky Hair Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).
[profiles.umassmed.edu]
We report a 2 year-old boy with Menkes' kinky hair disease associated with a solitary huge bladder diverticulum.
[ncbi.nlm.nih.gov]
[…] enlargement (hypertrophy; carcinoma) ureterocele (large) urethral stricture congenital syndromes Diamond-Blackfan syndrome Ehlers-Danlos syndrome Menkes syndrome (a.k.a. kinky-hair
[radiopaedia.org]
hair'' syndromes. [5] Congenital bladder diverticulums (CBD) are not frequent in children and an incidence of 1.7% was reported in a series of symptomatic patients evaluated
[dx.doi.org]
Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal phenylketonuria fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[emedcodes.com]
[…] syndrome Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[icd9data.com]
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as Menkes’ kinky hair syndrome, hypothyroidism, or trichothiodystrophy.
[strandandscience.com]
hair syndrome, Netherton syndrome, and Laron syndrome at the age of 2 years or later.
[tumorealseno.info]
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism
[en.wikipedia.org]
The thing is - I went back home for holidays last summer and this time my hair did not go back to its normal state, it remained kinky - though the hair shedding definitely
[alopeciaworld.com]
hair syndrome, Netherton syndrome, and Laron syndrome at the age of 2 years or later.
[capillaroscopia.it]
The pili torti hair disorder can be seen in a number of hair dystrophies and is associated with several syndromes such as Menkes kinky hair syndrome or twisting hair dystrophy
[hairdiseases.com]
Menkes disease is also known as copper transport disease, Menkes syndrome, kinky hair disease, Menkes kinky hair syndrome or steely hair disease.
[wisegeek.com]
Hair Syndrome (40 %) ( Kinky Hair Disease, Menkes Disease,) Follicular Atrophoderma (40 %) Biotinidase Deficiency (40 %) Lichen Planopilaris (37 %) ( Acuminatus, Follicular
[gulfdoctor.net]
Fingers, Palmoplantar Keratoderma And Clubbing,) Ehlers danlos Syndrome (40 %) ( Cutis Hyperelastica, Elastic Skin, India Rubber Skin,) Palmoplantar Keratoderma (40 %) Menkes Kinky
[gulfdoctor.net]
Página 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects.
[books.google.es]
Pagina 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects.
[books.google.it]
Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal phenylketonuria fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[emedcodes.com]
Ichthyosis, Decreased fertility, Short stature) (Trichothiodystrophy) 601675 Insect bites Keratitis-ichthyosiform erythroderma-deafness (KID) syndrome 148210 Kinky hair
[keratin.com]
As mentioned, Menkes’ kinky hair syndrome can have pili torti, trichorrhexis nodosa, trichoclasis, and trichoptilosis, making the hair feel like steel wool.
[hairtx.com]
Menkes' kinky hair syndrome ( ICD-10-CM Diagnosis Code E83.0 Disorders of copper metabolism 2016 2017 2018 2019 Non-Billable/Non-Specific Code E83.0 ) The following code(s
[icd10data.com]
A few days later, she confirmed her suspicions that Timmy had Menke’s kinky hair syndrome, a copper deficiency disease that caused the brain to deteriorate.
[globalgenes.org]
Their hair may be fine, silvery and brittle (kinky hair) and connective tissue disturbances lead to doughy skin.
[radiopaedia.org]
Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease; Copper transport disease; Trichopoliodystrophy; X-linked copper deficiency Kaler SG, Packman S.
[medlineplus.gov]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
· Loose anagen syndrome · Menkes kinky hair syndrome · Monilethrix · Parakeratosis pustulosa · Pili ( Pili annulati · Pili bifurcati · Pili multigemini · Pili pseudoannulati
[dictionary.sensagent.com]
The density of the hair, thickness of the hair, color of the hair, speed of hair growth, and qualities such as kinkiness, vary from one part of the body to another and from
[reviewessays.com]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
[…] syndrome MASS syndrome Meacham syndrome Meckel syndrome, type 4 MECP2 duplication syndrome Melanoma, cutaneous malignant 5 Melnick-Fraser syndrome Meningioma, familial Menkes kinky-hair
[pentacorelab.hu]
not elsewhere classified Beaded hair Monilethrix Pili annulati Excludes: Menkes' kinky hair syndrome ( E83.0 ) Q84.2 Other congenital malformations of hair Congenital: ·
[apps.who.int]
· Loose anagen syndrome · Menkes kinky hair syndrome · Monilethrix · Parakeratosis pustulosa · Pili (Pili annulati · Pili bifurcati · Pili multigemini · Pili pseudoannulati
[en.academic.ru]
[…] malformation of breast, unspecified Q84 Other congenital malformations of integument Q84.0 Congenital alopecia Congenital atrichosis Q84.1 Congenital morphological disturbances of hair
[apps.who.int]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
[…] syndrome Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[icd9data.com]
hair disease associated with large bladder diverticulum », édition Int J.
[nanopdf.com]
Joshua J, Meeks, Jennifer A, Hagerty, and Bruce W Lindgren, « Pediatric Robostic-Assisted Laparoscopic Diverticulectomy Urology », édition 2009. (72)Kageryama S, « Menkes Kinky
[nanopdf.com]
Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations.
[pediatrics.aappublications.org]
Case Discussion Menkes disease or "kinky hair syndrome" is a multi-systemic disorder with an X linked inheritance, and mutation of the gene ATP7A located on Xq13.3.
[radiopaedia.org]
Infant Infant, Newborn Intellectual Disability Male Menkes Kinky Hair Syndrome Microscopy, Electron, Scanning Nervous System Diseases Syndrome Pub Type(s) Case Reports Journal
[unboundmedicine.com]
Related Genes Calderon Gonzalez-cantu Syndrome has been researched against: KINKY Alternate Names Calderon Gonzalez-cantu Syndrome is also known as Kinky Hair, Photosensitivity
[novusbio.com]
Names and Terminology for Hair defect with photosensitivity and mental retardation Other Names : Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive
[familydiagnosis.com]
Title Other Names: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation (formerly); Calderon Gonzalez-Cantu syndrome; Calderón-González-Cantu
[rarediseases.info.nih.gov]
Scand J Gastroenterol 5: 421–426PubMedGoogle Scholar Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E (1972) Menkes’ kinky hair Syndrome: an inherited defect in copper
[link.springer.com]
In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism
[diki.pl]
[…] growth, 85-90%, 2-6 years transition, 1-2%, 2-3 wks resting, club hair, 3 months, 10-15% hair twisted at 90 to 360 degrees Menke's Kinky Hair: XLR, ATP7A (Cu ATPase), Brittle
[quizlet.com]
Calderon, R, Gonzales-Cantu, N: Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95: 1007 – 1008, 1979.
[journals.sagepub.com]
hair, and brittle nails.1 The diversity of enamel malformations observed is believed to reflect differences in the timing and duration of the occurance of the disruption
[aegisdentalnetwork.com]
[…] northern Sweden to 1 in 1,400 people in the United States.1-4 Some syndromes are mild, while others are devastating—characteristics include osteosclerosis of the base of skull, kinky
[aegisdentalnetwork.com]
Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal phenylketonuria fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[emedcodes.com]
Menkes "kinky hair" disease low copper levels and caruloplasmin due to defective ATP7A gene (can't absorb copper from GIT). What other condition has low caeruloplasmin?
[brainscape.com]
[…] syndrome Marfanoid joint hypermobility syndrome Marshall syndrome Marshall-Smith syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair
[icd9data.com]
hair, and brittle nails.1 The diversity of enamel malformations observed is believed to reflect differences in the timing and duration of the occurance of the disruption
[aegisdentalnetwork.com]
[…] northern Sweden to 1 in 1,400 people in the United States.1-4 Some syndromes are mild, while others are devastating—characteristics include osteosclerosis of the base of skull, kinky
[aegisdentalnetwork.com]
Hair Syndrome Phenylketonuria 32 Genetic Hypomelanoses : Localized Hypopigmentation " Hypomelanosis of Ito" and Mosaicism Focal Dermal Hypoplasia Hypomelanosis with Punctate
[homepage.vghtpe.gov.tw]
Menkes′ Kinky Hair Syndrome ( Tanusin Ploysangam ). Phenylketonuria ( Allan D. Mineroff ). 32 Genetic Hypomelanoses: Localized Hypopigmentation.
[amazon.it]
Menkes' Kinky Hair Syndrome (Tanusin Ploysangam). Phenylketonuria (Allan D. Mineroff). 32 Genetic Hypomelanoses: Localized Hypopigmentation.
[bookdepository.com]
It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.
[checkrare.com]
hair dz) XLR; MNK (aka ATP7a, copper transporting ATPase); doughy skin, sparse short hair, pili torti, seizures, growth failure, hypotonia, mental retardation XLD; HCCS
[quizlet.com]
[…] proto-oncogene: tyrosine kinase receptor); mucosal neuromas with thickened lips, marfanoid habitus, medullary thyroid carcinoma, pheochromocytoma, GI problems Menkes disease (Menkes kinky
[quizlet.com]
Ichthyosis, Decreased fertility, Short stature) (Trichothiodystrophy) 601675 Insect bites Keratitis-ichthyosiform erythroderma-deafness (KID) syndrome 148210 Kinky hair
[keratin.com]
Calderon R, Gonzalez-Cantu N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation.
[link.springer.com]
PubMed Google Scholar Calderon, R., and Gonzalez-Cantu, N., 1979, Kinky hair, photosensitivity, broken eyebrows and eyelashes, and non-progressive mental retardation. J.
[link.springer.com]
[…] growth, 85-90%, 2-6 years transition, 1-2%, 2-3 wks resting, club hair, 3 months, 10-15% hair twisted at 90 to 360 degrees Menke's Kinky Hair: XLR, ATP7A (Cu ATPase), Brittle
[quizlet.com]
Hypotrichosis ; Menkes Kinky Hair Syndrome ; Monilethrix ; Piedra Other names Hair Disease Substance CAS Registry & name Categories Source Naxos disease 0 *Hair Diseases
[reference.md]
Features such as twisted, thin hair distinguish this disease from typical curly/kinky hair and other causes of hair fragility and breakage. hair shaft is flattened at irregular
[scielo.br]
MENKES DISEASE Is also known as mk;mnk, menkes syndrome, kinky hair disease, steely hair disease, copper transport disease;kinky hair disease; kinky hair syndrome; md; mk;
[mendelian.co]
The kinky hair seen in children is lost in adults and the bone changes are not seen in all cases of trichodentoosseous syndrome.
[ijdr.in]
hair as infants, no unaffected subjects had kinky or curly hair.
[dna2.leeds.ac.uk]
