Autosomal recessive primary microcephaly
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
Description
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
Infants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.
MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.
People with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behaviour; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
MCPH
Microcephaly primary hereditary
Primary autosomal recessive microcephaly
True microcephaly
Related patient information and medicines
Patient information leaflet
Mucoviscidose
Mucoviscidose is an inherited disease which mainly affects the lungs and pancreas but can involve other organs. Symptoms usually begin in early childhood and include persistent cough, wheeze, repeated chest infections, difficulty digesting food and general ill health. How is cystic fibrosis inherited. Mucoviscidose is an autosomal recessive.
Patient information leaflet
Maladies de stockage du glycogène
Who gets glycogen storage disorders. Glycogen storage disorders are rare. It is estimated that about one baby in every 20,000 to 40,000 babies born has a glycogen storage disorder. Glycogen storage disorders are inherited. This means that they are passed on in families through your genes. Autosomal recessive inheritance pattern Most, but not all,.
Patient information leaflet
Maladie de Wilson
Maladie de Wilson is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. How is Wilson's disease inherited. Maladie de Wilson is an.
Patient information leaflet
Hémophilie
Hémophilie is a rare bleeding disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. Both haemophilias are inherited as X-linked recessive conditions. This describe... X-linked inheritance pattern Hémophilie is inherited in a pattern called 'X-linked.
Patient information leaflet
Hémochromatose
Because of the risk of developi... Causes de haemochromatosis Haemochromatosis est a genetic condition. It is passed on through families through codes inside cells called genes. A few different genes may be involved but 9 out of 10 people with haemochromatosis have an abnormal 'HFE' gene, which is on chromosome 6. Hémochromatose is an autosomal.
Patient information leaflet
Albinisme
How is albinism inherited. The gènes pour occulocutaneous albinism (OCA) are located on 'autosomal' chromosomes. These are the 22 pairs de chromosomes that contain genes for our general body characteristics, compared to the one pair of sex chromosomes. For a recessive condition (like most types of albinism) to occur, both of the person's.
Lectures complémentaires et références
- Autosomal recessive primary microcephaly; MedlinePlus, National Library of Medicine.
- Barbelanne M, Tsang WY. Molecular and cellular basis of autosomal recessive primary microcephaly. Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8.
- Bolat H, Sager SG, Turkyilmaz A, Cebi AH, Akin Y, Onay H, Ozkinay F, Unsel-Bolat G. Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes. Mol Syndromol. 2022 Dec;13(5):363-369. doi: 10.1159/000524391. Epub 2022 Apr 27.
- Cox J, Jackson AP, Bond J, Woods CG. What primary microcephaly can tell us about brain growth. Trends Mol Med. 2006 Aug;12(8):358-66. doi: 10.1016/j.molmed.2006.06.006. Epub 2006 Jul 10.
- Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol. 2010 Mar;90(3):363-83. doi: 10.1016/j.pneurobio.2009.11.002. Epub 2009 Dec 2.
- Naveed M, Kazmi SK, Amin M, Asif Z, Islam U, Shahid K, Tehreem S. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb). 2018 Aug 8;100:e7. doi: 10.1017/S0016672318000046.
- Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Megarbane A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.
- Roberts E, Hampshire DJ, Pattison L, Springell K, Jafri H, Corry P, Mannon J, Rashid Y, Crow Y, Bond J, Woods CG. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet. 2002 Oct;39(10):718-21. doi: 10.1136/jmg.39.10.718.
- Ruaud L, Drunat S, Elmaleh-Berges M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Neurological outcome in WDR62 primary microcephaly. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25.
- Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet. 2009 Nov;25(11):501-10. doi: 10.1016/j.tig.2009.09.011. Epub 2009 Oct 21.
- Verloes A, Drunat S, Passemard S. ASPM Primary Microcephaly. 2020 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK555474/
- Verloes A, Ruaud L, Drunat S, Passemard S. WDR62 Primary Microcephaly. 2022 Feb 17. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK578067/
- Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76(5):717-28. doi: 10.1086/429930. Epub 2005 Mar 31.
- Zaqout S, Kaindl AM. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain. Front Cell Dev Biol. 2022 Jan 17;9:784700. doi: 10.3389/fcell.2021.784700. eCollection 2021.
- Zaqout S, Morris-Rosendahl D, Kaindl AM. Autosomal Recessive Primary Microcephaly (MCPH): An Update. Neuropediatrics. 2017 Jun;48(3):135-142. doi: 10.1055/s-0037-1601448. Epub 2017 Apr 11.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.