VACTERL Association

Last update 08 May 2025

Basic Info

Synonyms

VACTEL Association, VACTERL Association, VACTERL Syndrome

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Introduction

An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities.

Clinical Trials associated with VACTERL Association

NCT03799705

/ CompletedNot ApplicableIIT

Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations

Researchers are trying to identify versions of genes as well as factors in subjects blood associated with certain types of congenital malformations(CMs). This study will help the researchers to better understand family traits that contribute to CMs.

Start Date01 Dec 2019

Sponsor / Collaborator

Mayo Clinic

100 Clinical Results associated with VACTERL Association

100 Translational Medicine associated with VACTERL Association

0 Patents (Medical) associated with VACTERL Association

169

Literatures (Medical) associated with VACTERL Association

01 Dec 2025·Child's Nervous System

Cervical spine considerations in Goldenhar syndrome: a clinical perspective

Article

Author: Jacob, Gregg A ; Mazzola, Catherine A ; Gadiraju, Sumana

BACKGROUNDGoldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.CLINICAL CASEIn this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome. The patient was scheduled for mandibular distraction surgery with oral maxillofacial surgery. It was noted on pre-operative three-dimensional computed tomography (3D CT) that there was mild basilar invagination and stenosis of the foramen magnum. A magnetic resonance imaging (MRI) study was recommended and showed cervicomedullary compression, for which a suboccipital craniectomy and C1 laminectomy were performed.CONCLUSIONConsidering the cervical spine anomalies in Goldenhar syndrome, we describe precautions to manage the risk of cervical spinal cord injury during general anesthesia, including pre-operative evaluation for cervical spine compression and/or instability and minimizing neck movement during intubation. For the latter, we recommend a controlled, neutral neck position during intubation, operation, and recovery.

01 Jun 2025·European Journal of Medical Genetics

Isolated congenital vertebral anomaly and Sprengel's deformity in a WBP11 pathogenic variant

Article

Author: Kim, Jaewon ; Shin, Bo Kyung ; Jang, Dae-Hyun ; Kim, Myung Shin

The pathogenic variant of WBP11 has been known as one of the various genetic causes of VACTERL syndrome. VACTERL syndrome is usually diagnosed with at least three clinical features of vertebral, heart, tracheal, esophageal, kidney, and limb anomalies. So far, only four WBP11 pathogenic variants have been documented from 13 patients, first and latest described in 2020. In this clinical report, we present a patient with an isolated vertebral anomaly and Sprengel's deformity, carrying a pathogenic variant of WBP11, representing a distinctive case of patient that has never been described before. An eight-month-old boy with a 5°-10° head tilt to the right was referred to our institution and the cervical X-ray imaging showed the vertebral anomaly. Three-dimensional (3D) volume-rendered computed tomography (CT) of the cervical spine revealed the fusion state of the right C2 and C3 facet joints. And the right shoulder appeared to be raised and right scapula elevation was identified in the 3D chest CT. In addition, whole genome sequencing presented a de novo novel WBP11 heterozygous pathogenic variant, with frameshift resulting in a loss of function. WBP11 is a cell cycle-related pleiotropic gene that encodes a pre-messenger RNA splicing factor involved in centriole duplication. Pathogenic variants in WBP11 are genetically implicated in the development of multiple congenital anomalies. Clinically, WBP11 has been previously associated with VACTERL syndrome. In this report, we document clinical manifestations, including vertebral anomalies and Sprengel's deformity. The findings presented in this report indicate that haploinsufficiency of WBP11, resulting from a heterozygous pathogenic variant, may give rise to a more diverse array of clinical phenotypes than previously documented.

01 Sep 2024·Journal of Pediatric Genetics

Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies in a Young Infant: First Case Entity of Casamassima–Morton–Nance Syndrome from Asia

Article

Author: Sherwani, Poonam ; Lourembam, Radhapyari ; Verma, Prashant Kumar ; Gupta, Manish Kumar

AbstractCasamassima–Morton–Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then, only seven such cases have been reported so far. CMNS phenotype shows a significant clinical variability as documented in the reported cases. Etiology remains unknown yet, and it carries a poor prognosis. Here, we reported on a young female infant born out of nonconsanguineous marriage with normal karyotype and spondylocostal dysostosis, anal and genitourinary malformations suggesting CMNS. Ours is the eighth, and first case entity of CMNS reported from Asia as per the literature search. In our case, the additional feature of bilateral clubfoot has not been documented earlier in the literature. It extends the clinical spectrum of the syndrome and prompts us to consider it a close differential diagnosis to VACTERL (vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula/esophageal atresia, renal anomalies, limb abnormalities) syndrome, which is commonly known and diagnosed. It also raises the question of whether cases of CMNS are being misdiagnosed as VACTERL syndrome due to its rarity.

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