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Conotruncal anomaly face syndrome(CAFS)

MedGen UID:
162890
•Concept ID:
C0795907
•
Disease or Syndrome
Synonyms: CAFS; Conotruncal anomaly face syndrome/velocardiofacial syndrome
 
OMIM®: 217095; 602054

Definition

A syndrome of dysmorphic facies and conotruncal heart defects having common genetic characteristics with DiGeorge and Shprinzen syndromes. Considered a variant of the CATCH 22 syndrome. [from MCA/MR]

Professional guidelines

PubMed

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH
Genet Test 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. PMID: 10464633
Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.
Thomas JA, Graham JM Jr
Clin Pediatr (Phila) 1997 May;36(5):253-66. doi: 10.1177/000992289703600502. PMID: 9152551

Recent clinical studies

Etiology

Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.
Leader G, Curtin A, Shprintzen RJ, Whelan S, Coyne R, Mannion A
Res Dev Disabil 2023 May;136:104491. Epub 2023 Mar 23 doi: 10.1016/j.ridd.2023.104491. PMID: 36965410
Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.
Cirillo E, Prencipe MR, Giardino G, Romano R, Scalia G, Genesio R, Nitsch L, Pignata C
J Allergy Clin Immunol Pract 2020 Oct;8(9):3112-3120. Epub 2020 Jul 12 doi: 10.1016/j.jaip.2020.06.051. PMID: 32668295
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM
Am J Med Genet A 2017 Jan;173(1):135-142. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37980. PMID: 27682988
Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.
Thomas JA, Graham JM Jr
Clin Pediatr (Phila) 1997 May;36(5):253-66. doi: 10.1177/000992289703600502. PMID: 9152551
Genetic basis of DiGeorge and velocardiofacial syndromes.
Driscoll DA
Curr Opin Pediatr 1994 Dec;6(6):702-6. doi: 10.1097/00008480-199412000-00016. PMID: 7849818

Diagnosis

Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.
Cirillo E, Prencipe MR, Giardino G, Romano R, Scalia G, Genesio R, Nitsch L, Pignata C
J Allergy Clin Immunol Pract 2020 Oct;8(9):3112-3120. Epub 2020 Jul 12 doi: 10.1016/j.jaip.2020.06.051. PMID: 32668295
In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?
Motahari Z, Moody SA, Maynard TM, LaMantia AS
J Neurodev Disord 2019 Jun 7;11(1):7. doi: 10.1186/s11689-019-9267-z. PMID: 31174463Free PMC Article
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM
Am J Med Genet A 2017 Jan;173(1):135-142. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37980. PMID: 27682988
CATCH 22 Syndrome.
Yonehara Y, Nakatsuka T, Ichioka S, Sasaki N, Kobayashi T
J Craniofac Surg 2002 Sep;13(5):623-6. doi: 10.1097/00001665-200209000-00005. PMID: 12218787
The 22q11.2 deletion syndrome.
Yamagishi H
Keio J Med 2002 Jun;51(2):77-88. doi: 10.2302/kjm.51.77. PMID: 12125909

Prognosis

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
Oskarsdóttir S, Vujic M, Fasth A
Arch Dis Child 2004 Feb;89(2):148-51. doi: 10.1136/adc.2003.026880. PMID: 14736631Free PMC Article
CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE
Pathologica 1999 Jun;91(3):166-72. PMID: 10536461
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.
Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T Jr
Pediatrics 1998 May;101(5):929-32. doi: 10.1542/peds.101.5.929. PMID: 9565428
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.
Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH
Clin Immunol Immunopathol 1998 Feb;86(2):141-6. doi: 10.1006/clin.1997.4463. PMID: 9473376
Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.
Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML
Hum Mol Genet 1997 Feb;6(2):267-76. doi: 10.1093/hmg/6.2.267. PMID: 9063747

Clinical prediction guides

Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.
Leader G, Curtin A, Shprintzen RJ, Whelan S, Coyne R, Mannion A
Res Dev Disabil 2023 May;136:104491. Epub 2023 Mar 23 doi: 10.1016/j.ridd.2023.104491. PMID: 36965410
Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion.
Cirillo E, Prencipe MR, Giardino G, Romano R, Scalia G, Genesio R, Nitsch L, Pignata C
J Allergy Clin Immunol Pract 2020 Oct;8(9):3112-3120. Epub 2020 Jul 12 doi: 10.1016/j.jaip.2020.06.051. PMID: 32668295
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM
Am J Med Genet A 2017 Jan;173(1):135-142. Epub 2016 Sep 28 doi: 10.1002/ajmg.a.37980. PMID: 27682988
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.
Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K
Hum Genet 1998 Jul;103(1):70-80. doi: 10.1007/s004390050786. PMID: 9737780
Genetic basis of DiGeorge and velocardiofacial syndromes.
Driscoll DA
Curr Opin Pediatr 1994 Dec;6(6):702-6. doi: 10.1097/00008480-199412000-00016. PMID: 7849818

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