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Microcephaly 7, primary, autosomal recessive(MCPH7)

MedGen UID:
436370
Concept ID:
C2675187
Disease or Syndrome
Synonym: Microcephaly, Primary Autosomal Recessive, 7
 
Gene (location): STIL (1p33)
 
Monarch Initiative: MONDO:0012989
OMIM®: 612703

Definition

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.

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 behavior; 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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
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.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Simplified gyral pattern
MedGen UID:
413664
Concept ID:
C2749675
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
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.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Solitary median maxillary central incisor syndrome
MedGen UID:
326686
Concept ID:
C1840235
Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.

Professional guidelines

PubMed

Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202

Recent clinical studies

Etiology

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
Kelly MN, Tuli SY, Tuli SS, Stern MA, Giordano BP
J Pediatr Health Care 2015 Jan-Feb;29(1):97-103. Epub 2014 Jun 20 doi: 10.1016/j.pedhc.2014.04.006. PMID: 24954735
Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG
J Med Genet 2009 Apr;46(4):249-53. Epub 2008 Nov 21 doi: 10.1136/jmg.2008.062380. PMID: 19028728Free PMC Article
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202
Nowzari H, Jorgensen MG, Ta TT, Contreras A, Slots J
J Periodontol 2001 Nov;72(11):1601-6. doi: 10.1902/jop.2001.72.11.1601. PMID: 11759873

Diagnosis

Nerakh G, Mounika K, Geeta K, Nalluri HB
Eur J Med Genet 2021 Jul;64(7):104233. Epub 2021 Apr 30 doi: 10.1016/j.ejmg.2021.104233. PMID: 33933664
Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G
Hum Genet 2015 Jan;134(1):45-51. Epub 2014 Sep 14 doi: 10.1007/s00439-014-1487-4. PMID: 25218063
Kelly MN, Tuli SY, Tuli SS, Stern MA, Giordano BP
J Pediatr Health Care 2015 Jan-Feb;29(1):97-103. Epub 2014 Jun 20 doi: 10.1016/j.pedhc.2014.04.006. PMID: 24954735
Mahmood S, Ahmad W, Hassan MJ
Orphanet J Rare Dis 2011 Jun 13;6:39. doi: 10.1186/1750-1172-6-39. PMID: 21668957Free PMC Article
Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG
Eur J Hum Genet 1999 Oct-Nov;7(7):815-20. doi: 10.1038/sj.ejhg.5200385. PMID: 10573015

Therapy

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
Kelly MN, Tuli SY, Tuli SS, Stern MA, Giordano BP
J Pediatr Health Care 2015 Jan-Feb;29(1):97-103. Epub 2014 Jun 20 doi: 10.1016/j.pedhc.2014.04.006. PMID: 24954735

Prognosis

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M
J Mol Neurosci 2022 Apr;72(4):719-729. Epub 2022 Jan 4 doi: 10.1007/s12031-021-01955-y. PMID: 34982360
Banerjee S, Chen H, Huang H, Wu J, Yang Z, Deng W, Chen D, Deng J, Su Y, Li Y, Wu C, Wang Y, Zeng H, Wang Y, Li X
Oncotarget 2016 Nov 29;7(48):78363-78371. doi: 10.18632/oncotarget.13279. PMID: 27852057Free PMC Article
Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S
Am J Med Genet A 2015 Dec;167A(12):3148-52. Epub 2015 Sep 3 doi: 10.1002/ajmg.a.37299. PMID: 26333564
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202

Clinical prediction guides

Batool T, Irshad S, Riaz M, Mahmood Baig S, Nuernberg P, Hussain MS
J Hum Genet 2023 Jul;68(7):469-475. Epub 2023 Mar 3 doi: 10.1038/s10038-023-01132-6. PMID: 36864288
Tavasoli AR, Memar EHE, Ashrafi MR, Hosseini SMM, Haghighi R, Ghabeli H, Pourbakhtyaran E, Rasoulinezhad M, Mohammadi P, Heidari M
J Mol Neurosci 2022 Apr;72(4):719-729. Epub 2022 Jan 4 doi: 10.1007/s12031-021-01955-y. PMID: 34982360
Moawia A, Shaheen R, Rasool S, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Irshad S, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A, Hussain MS
Ann Neurol 2017 Oct;82(4):562-577. Epub 2017 Oct 14 doi: 10.1002/ana.25044. PMID: 28892560
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, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A
Neurology 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a. PMID: 19770472
Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W
Neurogenetics 2006 May;7(2):105-10. Epub 2006 Apr 21 doi: 10.1007/s10048-006-0042-4. PMID: 16673149

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