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Congenital heart defect-round face-developmental delay syndrome

MedGen UID:: 167108
•Concept ID:: C0796162
•: Disease or Syndrome

Synonyms:	Round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development; Sonoda syndrome
SNOMED CT:	Sonoda syndrome (715987000); Congenital heart defect with round face and developmental delay syndrome (715987000)

Monarch Initiative:	MONDO:0010039
OMIM®:	270460
Orphanet:	ORPHA1355

Definition

A very rare syndrome described in three siblings of one Japanese family with main features of congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. [from SNOMEDCT_US]

Clinical features

From HPO

High axial triradius

MedGen UID:: 871318
•Concept ID:: C4025806
•: Anatomical Abnormality

See: Feature record | Search on this feature

Ventricular septal defect

MedGen UID:: 42366
•Concept ID:: C0018818
•: Congenital Abnormality

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

See: Feature record | Search on this feature

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Narrow mouth

MedGen UID:: 44435
•Concept ID:: C0026034
•: Congenital Abnormality

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

See: Feature record | Search on this feature

Round face

MedGen UID:: 116087
•Concept ID:: C0239479
•: Finding

The facial appearance is more circular than usual as viewed from the front.

See: Feature record | Search on this feature

Depressed nasal bridge

MedGen UID:: 373112
•Concept ID:: C1836542
•: Finding

Posterior positioning of the nasal root in relation to the overall facial profile for age.

See: Feature record | Search on this feature

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Abnormality of head or neck
Abnormality of limbs
- High axial triradius
Abnormality of the cardiovascular system
- Ventricular septal defect
Abnormality of the nervous system
- Intellectual disability
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital heart defect-round face-developmental delay syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Congenital heart defect-round face-developmental delay syndrome

Follow this link to review classifications for Congenital heart defect-round face-developmental delay syndrome in Orphanet.

Professional guidelines

PubMed

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA
Am J Med Genet A 2019 Sep;179(9):1725-1744. Epub 2019 Jun 20 doi: 10.1002/ajmg.a.61270. PMID: 31222966 Free PMC Article

Turner syndrome: mechanisms and management.

Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.

Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD
Circulation 2019 Aug 20;140(8):e382-e482. Epub 2018 Nov 6 doi: 10.1161/CIR.0000000000000628. PMID: 30586772

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Recent clinical studies

Etiology

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF
Biol Psychiatry 2019 Feb 15;85(4):287-297. Epub 2018 Mar 15 doi: 10.1016/j.biopsych.2018.02.1173. PMID: 29724491 Free PMC Article

Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorders.

Denny L, Coles S, Blitz R
Am Fam Physician 2017 Oct 15;96(8):515-522. PMID: 29094891

Noonan syndrome.

Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968 Free PMC Article

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891 Free PMC Article

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
Am J Hum Genet 2002 Jun;70(6):1555-63. Epub 2002 May 1 doi: 10.1086/340847. PMID: 11992261 Free PMC Article

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Diagnosis

The Changing Face of Turner Syndrome.

Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, Andersen NH, Skakkebaek A
Endocr Rev 2023 Jan 12;44(1):33-69. doi: 10.1210/endrev/bnac016. PMID: 35695701

Neonatal lupus erythematosus - practical guidelines.

Derdulska JM, Rudnicka L, Szykut-Badaczewska A, Mehrholz D, Nowicki RJ, Barańska-Rybak W, Wilkowska A
J Perinat Med 2021 Jun 25;49(5):529-538. Epub 2021 Jan 18 doi: 10.1515/jpm-2020-0543. PMID: 33470961

Turner syndrome: mechanisms and management.

Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

22q11.2 deletion syndrome.

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS
Nat Rev Dis Primers 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. PMID: 27189754 Free PMC Article

Noonan syndrome.

Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968 Free PMC Article

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Therapy

Turner syndrome: mechanisms and management.

Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

"Nihilism" of chronic heart failure therapy in children and why effective therapy is withheld.

Schranz D, Voelkel NF
Eur J Pediatr 2016 Apr;175(4):445-55. Epub 2016 Feb 19 doi: 10.1007/s00431-016-2700-3. PMID: 26895877 Free PMC Article

Newborn Respiratory Distress.

Hermansen CL, Mahajan A
Am Fam Physician 2015 Dec 1;92(11):994-1002. PMID: 26760414

Short QT syndrome.

Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M
Cardiovasc Res 2005 Aug 15;67(3):357-66. doi: 10.1016/j.cardiores.2005.03.026. PMID: 15890322

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Prognosis

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network, Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E
Eur J Hum Genet 2023 Oct;31(10):1117-1124. Epub 2023 Jul 27 doi: 10.1038/s41431-023-01434-5. PMID: 37500725 Free PMC Article

Neonatal lupus erythematosus - practical guidelines.

Noonan syndrome.

Roberts AE, Allanson JE, Tartaglia M, Gelb BD
Lancet 2013 Jan 26;381(9863):333-42. Epub 2013 Jan 10 doi: 10.1016/S0140-6736(12)61023-X. PMID: 23312968 Free PMC Article

Eponym: Barth syndrome.

Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T
Eur J Pediatr 2011 Nov;170(11):1365-7. Epub 2011 Sep 23 doi: 10.1007/s00431-011-1575-6. PMID: 21947198

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891 Free PMC Article

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Clinical prediction guides

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
Am J Hum Genet 2023 May 4;110(5):809-825. Epub 2023 Apr 18 doi: 10.1016/j.ajhg.2023.03.014. PMID: 37075751 Free PMC Article

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190 Free PMC Article

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082 Free PMC Article

Mowat-Wilson syndrome.

Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891 Free PMC Article

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996 Free PMC Article

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Recent systematic reviews

Abnormalities of pubertal development and gonadal function in Noonan syndrome.

Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M
Front Endocrinol (Lausanne) 2023;14:1213098. Epub 2023 Jul 28 doi: 10.3389/fendo.2023.1213098. PMID: 37576960 Free PMC Article

Placenta morphology and biomarkers in pregnancies with congenital heart disease - A systematic review.

Snoep MC, Aliasi M, van der Meeren LE, Jongbloed MRM, DeRuiter MC, Haak MC
Placenta 2021 Sep 1;112:189-196. Epub 2021 Aug 8 doi: 10.1016/j.placenta.2021.07.297. PMID: 34388551

Prevalence of prenatal brain abnormalities in fetuses with congenital heart disease: a systematic review.

Khalil A, Bennet S, Thilaganathan B, Paladini D, Griffiths P, Carvalho JS
Ultrasound Obstet Gynecol 2016 Sep;48(3):296-307. doi: 10.1002/uog.15932. PMID: 27062519

Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis.

Khalil A, Suff N, Thilaganathan B, Hurrell A, Cooper D, Carvalho JS
Ultrasound Obstet Gynecol 2014 Jan;43(1):14-24. Epub 2013 Dec 10 doi: 10.1002/uog.12526. PMID: 23737029

1q21.1 Microduplication expression in adults.

Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS
Genet Med 2013 Apr;15(4):282-9. Epub 2012 Sep 27 doi: 10.1038/gim.2012.129. PMID: 23018752 Free PMC Article

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Congenital heart defect-round face-developmental delay syndrome

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

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