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Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome

MedGen UID:
900298
•Concept ID:
C4225354
•
Disease or Syndrome
SNOMED CT: Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (1254652005)

Definition

A rare syndromic intellectual disability with characteristics of hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. [from SNOMEDCT_US]

Professional guidelines

PubMed

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA
Transl Psychiatry 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. PMID: 36182950Free PMC Article

Recent clinical studies

Etiology

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ
Am J Hum Genet 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006. PMID: 30388402Free PMC Article
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE
Am J Med Genet A 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553. PMID: 18973276Free PMC Article

Diagnosis

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Giraldo-Ocampo S, Pachajoa H
BMC Pediatr 2022 Oct 4;22(1):569. doi: 10.1186/s12887-022-03620-8. PMID: 36192675Free PMC Article
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, Ziegler A, Bonneau D, Colin E, Mercier S, Cogné B, Bézieau S, Edery P, Lesca G, Chatron N, Sabatier I, Duban-Bedu B, Colson C, Piton A, Durand B, Capri Y, Perrin L, Wiesener A, Zweier C, Maroofian R, Carroll CJ, Galehdari H, Mazaheri N, Callewaert B, Giulianno F, Zaafrane-Khachnaoui K, Buchert-Lo R, Haack T, Magg J, Rieß A, Blandfort M, Waldmüller S, Horber V, Leonardi E, Polli R, Turolla L, Murgia A, Frebourg T, Lebre AS, Nicolas G, Saugier-Veber P, Guerrot AM
Eur J Med Genet 2020 Oct;63(10):104004. Epub 2020 Jul 17 doi: 10.1016/j.ejmg.2020.104004. PMID: 32688057
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S
Am J Med Genet A 2016 Jun;170(6):1626-9. Epub 2016 Apr 7 doi: 10.1002/ajmg.a.37645. PMID: 27061120
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Graham JM Jr, Clark RD, Moeschler JB, Rogers RC
Am J Med Genet C Semin Med Genet 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. PMID: 20981778Free PMC Article
Clinical and behavioral characteristics in FG syndrome.
Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM
Am J Med Genet 1999 Aug 27;85(5):470-5. PMID: 10405444

Clinical prediction guides

Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Abad C, Robayo MC, Muñiz-Moreno MDM, Bernardi MT, Otero MG, Kosanovic C, Griswold AJ, Pierson TM, Walz K, Young JI
Transl Psychiatry 2024 Jan 18;14(1):33. doi: 10.1038/s41398-023-02678-x. PMID: 38238293Free PMC Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA
Transl Psychiatry 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. PMID: 36182950Free PMC Article

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