Malocclusion genetics

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives...

OBJECTIVES: X-linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in matched controls undergoing similar orthodontic procedures. MATERIALS AND METHODS: For this retrospective case-control study, we included all individuals less than 16 years old diagnosed with XLH, orthodontically treated in our centre from 2016 to 2022 and pair-matched them to patients with no chronic or genetic conditions...

Sonic hedgehog signaling molecule (SHH) is a key molecule in the cilia-mediated signaling pathway and a critical morphogen in embryogenesis. The association between loss-of-function variants of SHH and holoprosencephaly is well established. In mice experiments, reduced or increased signaling of SHH have been shown to be associated with narrowing or excessive expansion of the facial midline, respectively. Herein, we report two unrelated patients with de novo truncating variants of SHH presenting with hypertelorism rather than hypotelorism...

BACKGROUND: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. CASE PRESENTATION: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing...

The development of the craniomandibular system is guided by genetic interactions and environmental factors, including specific habits such as breastfeeding, bottle feeding, thumb sucking and the use of pacifiers. These habits can have a considerable impact on the growth of the developing jaws and can lead to malocclusion in children. This review aims to investigate potential associations between non-nutritive sucking habits (NNSHs) and malocclusions compared to the presence of nutritive sucking habits (NSHs)...

AIM AND OBJECTIVE: The study aimed to explore the correlation between dermatoglyphic patterns and quantitative palatal anatomic variables in individuals with different growth patterns. MATERIALS AND METHOD: A cross-sectional study was conducted involving 126 healthy patients aged 17-25 years. Participants were divided into three groups based on growth patterns: average, vertical, and horizontal. Dermatoglyphic patterns were recorded using an optical fingerprint sensor, and palatal characteristics were measured using digital software...

The presence of double mesiodens or mesiodentes, i.e., two supernumerary teeth in the maxillary midline, presents unique challenges in mixed dentition. Common clinical manifestations include delayed eruption, midline diastema, and occlusal disturbances, leading to complications such as root resorption, pathological migration of tooth, crowding, cyst formation, and malocclusion. Mesiodens can be associated with several syndromes, like cleidocranial dysplasia, familial adenomatous polyposis, trichorhinophalangeal syndrome, type I, Rubinstein-Taybi syndrome, and Nance-Horan syndrome, among others...

This systematic review aims to determine the role of the growth hormone receptor (GHR) gene in skeletal malocclusion and its significant influence on the growth of the maxilla and the mandible in both sagittal and vertical dimensions. A search of the electronic databases of PubMed, Google Scholar, and Cochrane up to and including the year 2023 was made. In addition to this, a hand search of orthodontic and dentofacial orthopaedic journals was carried out. This search included randomized control trials. The Mesh terms used were "skeletal class II malocclusion", "mandibular retrognathism", "sagittal malocclusion", "genetic expression", "genetic factors", "genetic study", "genetic polymorphism", and "single nucleotide polymorphism"...

OBJECTIVE: Primary failure of eruption is characterized by a nonsyndromic defect in tooth eruption in the absence of mechanical obstruction. It is correlated to rare heterozygous variants in the parathyroid hormone receptor 1 gene. The management of primary failure of eruption is complex because many therapies are ineffective. The present study aimed to compare the clinical outcomes of our patients with the findings reported in the literature, and to propose a treatment guideline based on the literature and our experience...

PURPOSE: Mandibular retrognathism (MR) is a common skeletal malocclusion in humans with a strong genetic component. Single nucleotide polymorphisms (SNPs) in genes encoding epidermal growth factor (EGF) and EGF receptor (EGFR) could be involved in the etiology of mandibular retrognathism. Therefore, in this study, we investigated whether SNPs in the genes encoding for EGF and EGFR are associated with MR in German teenagers. METHODS: This nested case-control study evaluated German orthodontic patients, aged 10-18 years...

BACKGROUND: Dental phenotype shows variation in the form of various metric and non-metric traits, primarily due to gene-environment interplay. It gives an insight into the evolutionary trends, ancestry, and food habits. Recently, it has been explored for genetic affinity with several growth anomalies and development of craniofacial skeleton which is also responsible for dental and skeletal malocclusions. OBJECTIVES: the current study aims to investigate the non-metric dental crown traits (NDCTs) using Arizona State University Dental Anthropology system (ASUDAS) in different types of malocclusions in Delhi, National Capital Region (NCR) population...

Pycnodysostosis is an ultra-rare osteosclerotic skeletal disorder characterized by short stature, susceptibly to fractures, acroosteolysis of the distal phalanges, and craniofacial features (frontal bossing, prominent nose, obtuse mandibular angle, micrognathia). Dental abnormalities (delayed eruption of teeth, hypodontia, malocclusion, dental crowding, persistence of deciduous teeth, enamel hypoplasia, and increased caries) are also frequent; due to bone metabolism alteration, the patients have an increased risk for jaw osteomyelitis, especially after tooth extraction or mandible fracture...

This study aimed to identify evidence from animal studies examining genetic variants underlying maxillomandibular discrepancies resulting in a skeletal Class III (SCIII) malocclusion phenotype. Following the Manual for Evidence Synthesis of the JBI and the PRISMA extension for scoping reviews, a participant, concept, context question was formulated and systematic searches were executed in the PubMed, Scopus, WOS, Scielo, Open Gray, and Mednar databases. Of the 779 identified studies, 13 met the selection criteria and were included in the data extraction...

BACKGROUND: Crouzon syndrome is an autosomal dominant genetic disorder characterized by craniosynostosis, midface retrusion, and exophthalmos. Over the past century, the treatment of craniofacial disorders like Crouzon syndrome has evolved significantly. METHODS: An institutional review board-approved retrospective study was conducted to ascertain the treatment of three individuals with Crouzon syndrome from one family, complemented with a series of literature searches to examine the evolution of craniofacial surgical history...

Anterior open bite malocclusion is a complex dental condition characterized by a lack of contact or overlap between the upper and lower front teeth. It can lead to difficulties with speech, chewing, and biting. Its etiology is multifactorial, involving a combination of genetic, environmental, and developmental factors. Genetic studies have identified specific genes and signaling pathways involved in jaw growth, tooth eruption, and dental occlusion that may contribute to open bite development. Understanding the genetic and epigenetic factors contributing to skeletal open bite is crucial for developing effective prevention and treatment strategies...

Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myopathy, neuropathy, deafness, and ocular findings. Here, we aim to present a elderly CDS case with highlightening the new endocrinological findings. A 66-year-old male patient with cirrhosis hospitalized for liver transplantation. We suspected Chanarin-Dorfman Syndrome with ichthyosis, fatty liver, and syndromic facial features with bilateral ectropion, deafness, and malocclusion. We showed the lipid droplets in neutrophils called patognomonic Jordans' anomaly...

Deep bite is a malocclusion phenotype, defined as the misalignment in the vertical dimension of teeth and jaws and characterized by excessive overlap of the upper front teeth over the lower front teeth. Numerous factors, including genetics, environmental factors, and behavioral ones, might contribute to deep bite. In this study, we discuss the current clinical treatment strategies for deep bite, summarize the already published findings of genetic analysis associated with this complex phenotype, and their constraints...

This review examines a prevalent condition with multifaceted etiology encompassing genetic, environmental, and oral behavioral factors. It stands as a significant ailment impacting oral functionality, aesthetics, and quality of life. Longitudinal studies indicate that malocclusion in primary dentition may progress to permanent malocclusion. Recognizing and managing malocclusion in primary dentition is gaining prominence. The World Health Organization ranks malocclusions as the third most widespread oral health issue globally...

BACKGROUND: Malocclusion is a multifactorial condition associated with genetic and environmental factors. The purpose of this study was to investigate the prevalence of occlusal traits, oral habits, and nose and throat conditions by age and to assess the association between malocclusion and its environmental factors in Japanese preschool children. METHODS: A total of 503 Japanese children (258 boys and 245 girls aged 3-6 years) were recruited. Occlusal traits were assessed visually to record sagittal, vertical, and transverse malocclusion, and space discrepancies...

BACKGROUND AND OBJECTIVE: The genetic basis of dentoalveolar characteristics has been investigated by several studies, however, the findings are equivocal. The objective of this systematic review and meta-analysis was to evaluate the heritability of dental arches and occlusal parameters in different stages of human dentition. SEARCH METHODS: Electronic databases PubMed, Embase, Scopus, Web of Science, and Dentistry and Oral Science Source were searched up to August 2023 without the restriction of language or publication date...