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Opitz G/BBB syndrome

MedGen UID:
946147
Concept ID:
CN263119
Disease or Syndrome
Synonyms: BBB syndrome; G syndrome; GBBB syndrome; hypertelorism hypospadias syndrome; hypertelorism with esophageal abnormality and hypospadias; Hypertelorism-hypospadias syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; hypertelorism-oesophageal abnormality-hypospadias syndrome; hypospadias-dysphagia syndrome; Hypospadias-dysphagia syndrome; hypospadias-dysphagia, syndrome; hypospadias-hypertelorism syndrome; Opitz BBB/G syndrome; Opitz BBBG syndrome; Opitz G syndrome; Opitz GBBB syndrome; Opitz syndrome; Opitz-Frias syndrome; Opitz-G syndrome, type 2; Opitz-GBBB syndrome; telecanthus with associated abnormalities
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0017138
Orphanet: ORPHA2745

Definition

Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. Some people with Opitz G/BBB syndrome have features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. About half of affected individuals also have an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Some have cleft palate without cleft lip. Less common features of Opitz G/BBB syndrome, affecting less than half of people with this disorder, include minor heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as a small or absent connection between the left and right halves of the brain (corpus callosum). Distinct facial features that may be seen in this disorder include a prominent forehead, widow's peak hairline, flat nasal bridge, thin upper lip, and low-set ears. These features vary among affected individuals, even within the same family.

Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular hypertelorism). Affected individuals commonly have defects of the voice box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening breathing problems. A common defect is a gap between the trachea and esophagus (laryngeal cleft) that allows food or fluids to enter the airway. The cleft can vary in size, and infants may struggle to breathe when feeding. Most males with Opitz G/BBB syndrome have genital abnormalities such as the urethra opening on the underside of the penis (hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract.

Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.  https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOpitz G/BBB syndrome

Professional guidelines

PubMed

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW
J Korean Med Sci 2006 Oct;21(5):790-3. doi: 10.3346/jkms.2006.21.5.790. PMID: 17043407Free PMC Article
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806
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

Recent clinical studies

Etiology

Sarno L, Maruotti GM, Izzo A, Mazzaccara C, Carbone L, Esposito G, Di Cresce M, Saccone G, Sirico A, Genesio R, Mollo N, Martinelli P, Conti A, Zullo F, Frisso G
J Matern Fetal Neonatal Med 2021 Sep;34(18):3089-3093. Epub 2019 Oct 21 doi: 10.1080/14767058.2019.1677594. PMID: 31630581
Dalben GDS, Garib DG, Pinto RO, Richieri-Costa A, Taveira LAA
Cleft Palate Craniofac J 2019 Nov;56(10):1366-1372. Epub 2019 Jun 19 doi: 10.1177/1055665619857001. PMID: 31216877
Pinto AM, Imperatore V, Bianciardi L, Baldassarri M, Galluzzi P, Furini S, Centini G, Renieri A, Mari F
Clin Dysmorphol 2017 Jan;26(1):18-25. doi: 10.1097/MCD.0000000000000152. PMID: 27749392
Hsieh EW, Vargervik K, Slavotinek AM
Am J Med Genet A 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368. PMID: 18697196
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G
Hum Mutat 2007 Feb;28(2):206-7. doi: 10.1002/humu.9480. PMID: 17221865

Diagnosis

Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020252. PMID: 35205294Free PMC Article
Cammarata-Scalisi F, Avendaño A, Callea M
Arch Argent Pediatr 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. PMID: 30457727
Pinto AM, Imperatore V, Bianciardi L, Baldassarri M, Galluzzi P, Furini S, Centini G, Renieri A, Mari F
Clin Dysmorphol 2017 Jan;26(1):18-25. doi: 10.1097/MCD.0000000000000152. PMID: 27749392
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G
Hum Mutat 2007 Feb;28(2):206-7. doi: 10.1002/humu.9480. PMID: 17221865

Prognosis

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M
Pediatr Res 2023 Apr;93(5):1208-1215. Epub 2022 Aug 11 doi: 10.1038/s41390-022-02237-y. PMID: 35953512
Bu H, Liu L, Hu S, Tan Z, Zhao T
Mol Med Rep 2019 May;19(5):3831-3840. Epub 2019 Mar 15 doi: 10.3892/mmr.2019.10043. PMID: 30896870
Cheng YK, Huang J, Law KM, Chan YM, Leung TY, Choy KW
Clin Chim Acta 2014 Sep 25;436:140-2. Epub 2014 May 23 doi: 10.1016/j.cca.2014.05.006. PMID: 24863803
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article
Stein PA, Toret CP, Salic AN, Rolls MM, Rapoport TA
J Cell Sci 2002 Sep 1;115(Pt 17):3389-402. doi: 10.1242/jcs.115.17.3389. PMID: 12154070

Clinical prediction guides

Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M
Pediatr Res 2023 Apr;93(5):1208-1215. Epub 2022 Aug 11 doi: 10.1038/s41390-022-02237-y. PMID: 35953512
Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020252. PMID: 35205294Free PMC Article
Bu H, Liu L, Hu S, Tan Z, Zhao T
Mol Med Rep 2019 May;19(5):3831-3840. Epub 2019 Mar 15 doi: 10.3892/mmr.2019.10043. PMID: 30896870
Giovani ÉM, Marinho KC, Andia-Merlin R
Spec Care Dentist 2017 Mar;37(2):102-106. Epub 2016 Sep 19 doi: 10.1111/scd.12200. PMID: 27642052
Fontanella B, Russolillo G, Meroni G
Hum Mutat 2008 May;29(5):584-94. doi: 10.1002/humu.20706. PMID: 18360914

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