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Megalencephaly, autosomal dominant

MedGen UID:
812057
Concept ID:
C3805727
Disease or Syndrome
Synonym: MEGALENCEPHALY, AUTOSOMAL DOMINANT
 
Monarch Initiative: MONDO:0007961
OMIM®: 155350

Definition

Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). [from OMIM]

Clinical features

From HPO
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Megalencephaly
MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
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.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

Recent clinical studies

Etiology

Büki G, Bekő A, Bödör C, Urbán P, Németh K, Hadzsiev K, Fekete G, Kehrer-Sawatzki H, Bene J
Int J Mol Sci 2023 Sep 1;24(17) doi: 10.3390/ijms241713580. PMID: 37686382Free PMC Article
Basto DL, de Souza Vieira G, Andrade-Losso RM, Almeida PN, Riccardi VM, Rozza-de-Menezes RE, Cunha KS
Orphanet J Rare Dis 2022 Sep 5;17(1):341. doi: 10.1186/s13023-022-02482-8. PMID: 36064430Free PMC Article
Happle R
J Eur Acad Dermatol Venereol 2015 Dec;29(12):2295-305. Epub 2015 Apr 10 doi: 10.1111/jdv.13147. PMID: 25864701
Way SW, McKenna J 3rd, Mietzsch U, Reith RM, Wu HC, Gambello MJ
Hum Mol Genet 2009 Apr 1;18(7):1252-65. Epub 2009 Jan 15 doi: 10.1093/hmg/ddp025. PMID: 19150975Free PMC Article
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C
Nat Genet 1996 May;13(1):114-6. doi: 10.1038/ng0596-114. PMID: 8673088

Diagnosis

Arai H, Akagi K, Nakagawa A, Onai Y, Utsu Y, Masuda S, Aotsuka N
Medicine (Baltimore) 2023 Jan 6;102(1):e32572. doi: 10.1097/MD.0000000000032572. PMID: 36607858Free PMC Article
Giraldo-Ocampo S, Pachajoa H
BMC Pediatr 2022 Oct 4;22(1):569. doi: 10.1186/s12887-022-03620-8. PMID: 36192675Free PMC Article
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free PMC Article
Maines E, Franceschi R, Martinelli D, Soli F, Lepri FR, Piccoli G, Soffiati M
Hormones (Athens) 2021 Dec;20(4):623-640. Epub 2021 Apr 20 doi: 10.1007/s42000-021-00287-1. PMID: 33876391
Cohen MM Jr
J Craniofac Genet Dev Biol 1990;10(2):215-38. PMID: 2211967

Therapy

Sidira C, Vargiami E, Dragoumi P, Zafeiriou DI
Eur J Paediatr Neurol 2021 Jan;30:58-65. Epub 2020 Dec 23 doi: 10.1016/j.ejpn.2020.12.007. PMID: 33387903
Powell BR, Budden SS, Buist NR
J Pediatr 1993 Jul;123(1):70-5. doi: 10.1016/s0022-3476(05)81539-2. PMID: 8320628

Prognosis

Alhajaj G, Lacroix C, Trakadis Y, Garfinkle J, Srour M
Am J Med Genet A 2023 Sep;191(9):2416-2421. Epub 2023 May 30 doi: 10.1002/ajmg.a.63307. PMID: 37248744
Allanson JE
Am J Med Genet 1988 Nov;31(3):637-42. doi: 10.1002/ajmg.1320310319. PMID: 3228142

Clinical prediction guides

Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F
J Med Genet 2022 Jul;59(7):697-705. Epub 2021 Jul 28 doi: 10.1136/jmedgenet-2020-107470. PMID: 34321323Free PMC Article
Maines E, Franceschi R, Martinelli D, Soli F, Lepri FR, Piccoli G, Soffiati M
Hormones (Athens) 2021 Dec;20(4):623-640. Epub 2021 Apr 20 doi: 10.1007/s42000-021-00287-1. PMID: 33876391
Ramos Mejía R, Rodríguez Celin M, Fano V
Arch Argent Pediatr 2018 Aug 1;116(4):e560-e566. doi: 10.5546/aap.2018.eng.e560. PMID: 30016033
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C
Nat Genet 1996 May;13(1):114-6. doi: 10.1038/ng0596-114. PMID: 8673088
Allanson JE
Am J Med Genet 1988 Nov;31(3):637-42. doi: 10.1002/ajmg.1320310319. PMID: 3228142

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