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Impaired intellectual development and distinctive facial features with cardiac defects

MedGen UID:
898025
•Concept ID:
C4225516
•
Disease or Syndrome
Synonym: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS
 
OMIM®: 608771

Recent clinical studies

Etiology

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351

Diagnosis

Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K
Am J Med Genet A 2019 Jul;179(7):1126-1138. Epub 2019 May 6 doi: 10.1002/ajmg.a.61174. PMID: 31058441Free PMC Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J
Neurogenetics 2018 May;19(2):93-103. Epub 2018 Mar 6 doi: 10.1007/s10048-018-0541-0. PMID: 29511999
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Eker HK, Derinkuyu BE, Ünal S, Masliah-Planchon J, Drunat S, Verloes A
Eur J Med Genet 2014 Jan;57(1):32-6. Epub 2013 Nov 7 doi: 10.1016/j.ejmg.2013.10.005. PMID: 24211661
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351

Prognosis

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E
Medicina (Kaunas) 2023 Jun 29;59(7) doi: 10.3390/medicina59071225. PMID: 37512036Free PMC Article
Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.
Eker HK, Derinkuyu BE, Ünal S, Masliah-Planchon J, Drunat S, Verloes A
Eur J Med Genet 2014 Jan;57(1):32-6. Epub 2013 Nov 7 doi: 10.1016/j.ejmg.2013.10.005. PMID: 24211661
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351
Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.
Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Klüppel M, Lin AE
Am J Med Genet A 2005 Feb 15;133A(1):1-12. doi: 10.1002/ajmg.a.30495. PMID: 15637729

Clinical prediction guides

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E
Medicina (Kaunas) 2023 Jun 29;59(7) doi: 10.3390/medicina59071225. PMID: 37512036Free PMC Article
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D, Fernández-Núñez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, Aglan M, Boschann F, Ruiz-Perez VL
Genet Med 2021 Apr;23(4):679-688. Epub 2021 Jan 13 doi: 10.1038/s41436-020-01052-2. PMID: 33442026
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K
Am J Med Genet A 2019 Jul;179(7):1126-1138. Epub 2019 May 6 doi: 10.1002/ajmg.a.61174. PMID: 31058441Free PMC Article
HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA
Am J Med Genet A 2006 Jan 1;140(1):8-16. doi: 10.1002/ajmg.a.31078. PMID: 16372351

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