Dental Disorders Classification System
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Questions and Answers

The classification system includes eight groups related to dental disorders.

True (A)

A causal gene has been identified for 90% of the entities analyzed.

False (B)

The group 'TÊTECOU' is a French collaborative network involved in this classification.

True (A)

The classification system is intended solely for dental research and not for clinical use.

<p>False (B)</p> Signup and view all the answers

Systematic literature analysis yielded 408 entities with dental disorders.

<p>True (A)</p> Signup and view all the answers

The classification only covers syndromic disorders without mentioning isolated disorders.

<p>False (B)</p> Signup and view all the answers

Enamel and dentin issues are classified as separate groups within the system.

<p>True (A)</p> Signup and view all the answers

Critical evaluations of the definitions and classifications are discouraged.

<p>False (B)</p> Signup and view all the answers

Dental anomalies can only occur during adulthood.

<p>False (B)</p> Signup and view all the answers

The multidisciplinary group of experts defines dental anomalies.

<p>True (A)</p> Signup and view all the answers

Complete nosologies of dental disorders have been entirely published.

<p>False (B)</p> Signup and view all the answers

Existing terminology of dental anomalies was developed without any database analysis.

<p>False (B)</p> Signup and view all the answers

Dental anomalies reflect disturbances in odontogenesis.

<p>True (A)</p> Signup and view all the answers

Data regarding dental anomalies can only be sourced from a single nomenclature.

<p>False (B)</p> Signup and view all the answers

Tooth initiation is one of the stages that can be disturbed, leading to dental anomalies.

<p>True (A)</p> Signup and view all the answers

The completion of root development only occurs after the eruption of the last third molar.

<p>True (A)</p> Signup and view all the answers

Oligodontia-colorectal cancer syndrome is linked to the AXIN2 gene.

<p>True (A)</p> Signup and view all the answers

Ectodermal dysplasia 1 is an autosomal recessive condition.

<p>False (B)</p> Signup and view all the answers

There are five different types of selective tooth agenesis identified.

<p>True (A)</p> Signup and view all the answers

The GJB6 gene is associated with Ectodermal dysplasia 2, Clouston type.

<p>True (A)</p> Signup and view all the answers

Taurodontia is associated with congenital absence of teeth.

<p>True (A)</p> Signup and view all the answers

Ectodermal dysplasia includes conditions related to hair, nails, and teeth.

<p>True (A)</p> Signup and view all the answers

Böök syndrome is characterized by severe hyperhidrosis of the hands and feet.

<p>True (A)</p> Signup and view all the answers

Ectodermal dysplasia 10B is an autosomal dominant condition.

<p>False (B)</p> Signup and view all the answers

The MSX1 gene is linked to both tooth agenesis and ectodermal dysplasia types.

<p>True (A)</p> Signup and view all the answers

Dermoodontodysplasia is related to abnormal development of several ectodermal structures.

<p>True (A)</p> Signup and view all the answers

Ectodermal dysplasia with natal teeth is termed Turnpenny type.

<p>True (A)</p> Signup and view all the answers

The PAX9 gene is associated with selective tooth agenesis type 3.

<p>True (A)</p> Signup and view all the answers

SKI is a gene associated with Ectodermal dysplasia 10A.

<p>False (B)</p> Signup and view all the answers

Deafness, congenital, and onychodystrophy is inherited in an autosomal recessive manner.

<p>False (B)</p> Signup and view all the answers

Progeroid short stature with pigmented nevi is associated with intellectual disability.

<p>True (A)</p> Signup and view all the answers

Axenfeld-Rieger syndrome, type 1 is linked to the gene PITX2.

<p>True (A)</p> Signup and view all the answers

Ectodermal dysplasia of trichoodontoonychial type has no reported manifestations related to hearing.

<p>False (B)</p> Signup and view all the answers

Coffin-Lowry syndrome is inherited in an X-linked dominant manner.

<p>True (A)</p> Signup and view all the answers

Short stature, onychodysplasia, and facial dysmorphism are typical manifestations of Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.

<p>True (A)</p> Signup and view all the answers

Andersen syndrome is associated with mutations in the KCNJ2 gene.

<p>True (A)</p> Signup and view all the answers

Telecanthus is listed under eye diseases.

<p>True (A)</p> Signup and view all the answers

Blepharocheilodontic syndrome is inherited in an autosomal recessive manner.

<p>False (B)</p> Signup and view all the answers

Dermatoosteolysis, Kirghizian type has been linked to specific joint issues.

<p>True (A)</p> Signup and view all the answers

The PAX3 gene is associated with Waardenburg syndrome, type 1.

<p>True (A)</p> Signup and view all the answers

Chromosome 6pter-p24 deletion syndrome is associated with significant hearing loss.

<p>False (B)</p> Signup and view all the answers

Pilodental dysplasia has normal sweating and fingernails as part of its manifestations.

<p>True (A)</p> Signup and view all the answers

Wolf-Hirschhorn syndrome has an autosomal dominant inheritance pattern.

<p>True (A)</p> Signup and view all the answers

Cleft lip/palate-ectodermal dysplasia syndrome is associated with gene NECTIN1.

<p>True (A)</p> Signup and view all the answers

Cranioectodermal dysplasia 1 is caused by mutations in the IFT43 gene.

<p>False (B)</p> Signup and view all the answers

EEC syndrome-1 manifests with features such as anhidrotic ectodermal dysplasia and cleft lip.

<p>True (A)</p> Signup and view all the answers

The primary genetic factor for Rapp-Hodgkin syndrome is associated with the TP63 gene.

<p>True (A)</p> Signup and view all the answers

ADULT syndrome includes various features like split hands and feet.

<p>True (A)</p> Signup and view all the answers

Hay-Wells syndrome is solely inherited in an autosomal recessive manner.

<p>False (B)</p> Signup and view all the answers

Ectodermal dysplasia with immune deficiency is associated with the IKBKG gene.

<p>True (A)</p> Signup and view all the answers

Dilated cardiomyopathy with woolly hair is a recessively inherited condition.

<p>False (B)</p> Signup and view all the answers

Ectodermal dysplasia/skin fragility syndrome primarily features skin blistering.

<p>True (A)</p> Signup and view all the answers

Acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes (AREDYLD) has a known genetic basis.

<p>False (B)</p> Signup and view all the answers

Cerebellar ataxia and ectodermal dysplasia can occur simultaneously.

<p>True (A)</p> Signup and view all the answers

The gene associated with Cranioectodermal dysplasia 4 is WDR35.

<p>False (B)</p> Signup and view all the answers

Incontinentia pigmenti is inherited in an X-linked dominant fashion.

<p>True (A)</p> Signup and view all the answers

Dysosteosclerosis is associated with the gene SLC29A3.

<p>True (A)</p> Signup and view all the answers

Kabuki syndrome is an autosomal recessive disorder.

<p>False (B)</p> Signup and view all the answers

Johanson-Blizzard syndrome is characterized by pancreatic insufficiency.

<p>True (A)</p> Signup and view all the answers

Ellis-van Creveld syndrome is linked to the EVC1 and EVC2 genes.

<p>True (A)</p> Signup and view all the answers

Hypogonadotropic hypogonadism 1 is not associated with anomalies of the hypothalamic-pituitary axis.

<p>False (B)</p> Signup and view all the answers

Sotos syndrome is primarily inherited in an autosomal recessive manner.

<p>False (B)</p> Signup and view all the answers

Rothmund-Thomson syndrome is associated with the RECQL4 gene.

<p>True (A)</p> Signup and view all the answers

Weyers acrodental dysostosis involves manifestations such as nail dystrophy and postaxial polydactyly.

<p>True (A)</p> Signup and view all the answers

Alagille syndrome is characterized by an abundance of intrahepatic bile ducts.

<p>False (B)</p> Signup and view all the answers

Carpenter syndrome is associated with obesity and intellectual disability.

<p>True (A)</p> Signup and view all the answers

The gene associated with Hypogonadotropic hypogonadism 2 is FGFR1.

<p>True (A)</p> Signup and view all the answers

Branchiooculofacial syndrome causes conductive hearing loss.

<p>True (A)</p> Signup and view all the answers

Acrofacial dysostosis, Palagonia type, is inherited in an autosomal dominant manner.

<p>False (B)</p> Signup and view all the answers

Hypogonadotropic hypogonadism 3 with anosmia is linked to the gene PROKR2.

<p>True (A)</p> Signup and view all the answers

Flashcards

Dental Agenesis

The absence of one or more teeth, typically due to genetic factors or developmental problems.

Supernumerary Teeth

The presence of extra teeth beyond the normal number, often found in the front of the mouth.

Dental Size and Shape

Abnormalities in the size and shape of teeth, such as abnormally small or large teeth, or unusual tooth forms.

Enamel Anomaly

Problems with the enamel, the hard outer layer of teeth, leading to discoloration, pitting, or weakened enamel.

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Dentin Anomaly

Disorders affecting the dentin, the layer beneath enamel, resulting in yellowish or discolored teeth.

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Dental Eruption Anomaly

Issues with the timing or process of tooth development and emergence into the mouth, leading to delayed or impacted teeth.

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Periodontal and Gingival Anomaly

Problems with the gums and tissues supporting the teeth, including gum disease and receding gum lines.

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Tumor-like Anomaly

Abnormal growths or masses within the mouth that can affect teeth and surrounding tissues.

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Dental Anomalies

Variations in tooth structure, number, or position that occur during development.

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Odontogenesis

The process of tooth development, encompassing stages from initiation to eruption.

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What are the stages of tooth development?

Tooth development includes initiation, morphogenesis, cytodifferentiation, mineralization, and modeling.

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What is a nosology?

A classification system for diseases and conditions, like a dictionary of dental ailments.

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Syndromic Dental Disorders

Dental anomalies that occur as part of a larger syndrome, meaning they are connected with other medical conditions.

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Isolated Dental Disorders

Dental anomalies that occur alone, without being connected to other medical syndromes.

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HPO (Human Phenotype Ontology)

A database that describes human characteristics, including dental anomalies, and their connections to various genetic disorders.

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What are some examples of databases used to classify dental anomalies?

The Human Phenotype Ontology (HPO), Orphanet, NEN9313:2015, Dphenodent, ICD10-ICD11, and standard terminology from Carey et al., 2009 are resources used to classify dental anomalies.

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Tooth Agenesis

The absence of one or more teeth, typically due to genetic factors or developmental problems.

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Oligodontia

A condition where several (but not all) teeth are missing.

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Anodontia

The complete absence of all teeth.

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Hypodontia

A condition where a few teeth are missing.

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Ectodermal Dysplasia

A group of rare inherited disorders that affect the development of ectoderm-derived tissues, including skin, hair, teeth, and sweat glands.

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Hypohidrotic Ectodermal Dysplasia

A type of ectodermal dysplasia characterized by a lack of sweat glands, leading to dry skin and an inability to sweat.

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Taurodontia

A dental anomaly characterized by abnormally large, elongated tooth pulp chambers.

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What are the common symptoms of Ectodermal Dysplasia?

The common symptoms include sparse and thin hair, missing or malformed teeth, and dry or scaly skin.

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What is the gene responsible for X-linked Hypohidrotic Ectodermal Dysplasia?

The gene responsible for X-linked Hypohidrotic Ectodermal Dysplasia is EDA (ectodysplasin A).

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What is the inheritance pattern of Ectodermal Dysplasia 1?

Ectodermal Dysplasia 1 is an X-linked recessive disorder, meaning that it is passed down from a carrier mother to her sons.

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What is the protein affected in Ectodermal Dysplasia 3 (Witkop type)?

The protein affected is MSX1 (homeobox protein MSX-1).

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What is the main feature of Böök syndrome?

Böök Syndrome is characterized by severe hyperhidrosis (excessive sweating) of the hands and feet.

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What are the main features of Dermoodontodysplasia?

Dermoodontodysplasia is characterized by abnormal development of hair, nails, teeth, and sweat glands, without other systemic findings.

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What distinguishes Trichodental Dysplasia from other Ectodermal Dysplasias?

Trichodental Dysplasia is characterized by sparse scalp hair that grows slowly, along with missing or malformed teeth.

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What is the inheritance pattern of Odontoonychodermal Dysplasia?

Odontoonychodermal Dysplasia is an autosomal dominant disorder, meaning that a single copy of the affected gene is enough to cause the disorder.

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Wolf-Hirschhorn syndrome

A genetic disorder characterized by growth and developmental delays, facial abnormalities (resembling a 'Greek warrior helmet' profile), and intellectual disability.

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Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)

A rare genetic disorder resulting in cleft lip and palate, sparse hair, malformed ears, partial webbing between fingers/toes, and reduced sweating (hypohidrosis).

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Cranioectodermal dysplasia

A group of disorders affecting skull and skin development, including craniosynostosis (skull bones fuse too early), short stature, hair loss, small nails, and other developmental problems.

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EEC syndrome-1

A genetic disorder that causes anhidrotic ectodermal dysplasia (lack of sweating), cleft lip and palate.

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Orofacial cleft 8

A genetic disorder causing anhidrotic ectodermal dysplasia, cleft lip and palate, similar to EEC syndrome-1.

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ADULT syndrome

A genetic disorder characterized by split hand/foot malformations, small nails, breast underdevelopment, freckling, and lacrimal duct problems.

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Ectodermal dysplasia, ectrodactyly, and macular dystrophy

A genetic disorder involving ectodermal dysplasia (skin, hair, nail problems), split hand/foot malformations, and a vision disorder.

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Ectodermal dysplasia-syndactyly syndrome 1

A rare genetic disorder causing ectodermal dysplasia (skin, hair, nail problems) and syndactyly (webbed fingers/toes).

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Hay-Wells syndrome

A genetic disorder characterized by syndactyly (webbed fingers/toes), scalp infections, fused eyelids, and cleft lip/palate.

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Limb-mammary syndrome

A rare genetic disorder causing severe hand/foot abnormalities and underdeveloped breasts and nipples.

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Odontotrichoungual-digital-palmar syndrome

A genetic disorder characterized by sparse hair, syndactyly, deep creases on the palms, and small nails.

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Incontinentia pigmenti

A rare genetic disorder affecting primarily females, causing skin abnormalities in a specific pattern, sparse hair, nail problems, and neurological issues.

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Ectodermal dysplasia, hypohidrotic, with immune deficiency

A genetic disorder causing reduced sweating (hypohidrosis), skin, hair, and nail problems, and an impaired immune system.

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Cardiomyopathy, dilated, with woolly hair and keratoderma

A genetic disorder causing a weakened and enlarged heart (dilated cardiomyopathy), along with unusual hair and skin.

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Acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes (AREDYLD)

A rare genetic disorder affecting skin, kidneys, and metabolism, causing absence of fat, diabetes, and other features.

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AD inheritance

Autosomal dominant inheritance pattern where a single copy of a mutated gene is sufficient to cause the condition. The affected individual inherits the mutated gene from one parent.

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AR inheritance

Autosomal recessive inheritance pattern where two copies of a mutated gene are needed for the condition to manifest. The affected individual receives one mutated gene from each parent.

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XLD inheritance

X-linked dominant inheritance pattern where a single mutated gene on the X chromosome will lead to the condition in both males and females.

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IC inheritance

Incomplete or uncertain inheritance pattern where the mode of inheritance is not clearly defined. The condition may be caused by mutations in multiple genes or by complex interactions between genes and environment.

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Gene/locus

The specific location of a gene on a chromosome. It refers to the region of DNA where a particular gene can be found.

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Protein name & function

Describes the protein product encoded by the gene and its role in cellular processes.

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Phenotype

The observable characteristics of an organism, including physical traits and medical conditions resulting from the interplay of genes and environment.

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MIM number

Mendelian Inheritance in Man number, a unique identifier assigned to each gene and genetic condition in the database, used for cataloging genetic disorders.

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Orphanet number

A unique identifier for each rare disease entry in Orphanet, a database cataloging rare diseases and associated information.

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What is the relationship between dental anomalies and syndromes?

Dental anomalies can occur as part of a larger syndrome, a condition with multiple related symptoms, or they can be isolated and not related to other health issues.

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What are some examples of dental anomalies associated with syndromes?

Several dental anomalies, such as dental agenesis (missing teeth), supernumerary teeth, and enamel defects, are linked to specific syndromes, indicating their inclusion in a larger group of medical conditions.

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What are some databases used to classify dental anomalies?

Human Phenotype Ontology (HPO) with Orphanet and NEN9313:2015 facilitate the classification of dental anomalies, helping to provide a standardized approach to diagnosing and understanding these variations.

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What is the significance of classifying dental anomalies?

Classifying dental anomalies is crucial for understanding their causes, patterns of inheritance, and potential associated syndromes, leading to better diagnosis and treatment planning.

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What are some examples of dental anomalies?

Dental anomalies include a range of variations, encompassing missing or extra teeth, altered enamel, and issues with tooth shape and size.

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What does AR stand for in genetics?

AR stands for "Autosomal Recessive," a mode of inheritance where a person needs to inherit two copies of a faulty gene, one from each parent, to develop the condition.

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What does AD stand for in genetics?

AD stands for "Autosomal Dominant," an inheritance pattern where one copy of a faulty gene, inherited from either parent, is sufficient for a person to develop the condition.

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What is XLD inheritance?

XLD stands for "X-linked dominant," a mode of inheritance where a faulty gene on the X chromosome can cause a disorder, even if only one copy is inherited.

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What does 'inheritance' refer to in genetics?

Inheritance refers to how a gene is passed from parents to their offspring. It describes the pattern of how a specific trait or condition is transmitted.

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What is 'phenotype' in genetics?

Phenotype refers to the observable characteristics of an organism, including physical traits, biochemical traits, and even behavioral traits.

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What is a 'gene'?

A gene is a segment of DNA that carries the instructions for building and maintaining a specific trait or characteristic.

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What is a 'protein'?

A protein is a complex molecule made up of amino acids, built according to the instructions in a gene. Proteins perform various functions in the body, like building structures, transporting molecules, and regulating processes.

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What is 'osteopetrosis'?

Osteopetrosis is a rare genetic disorder characterized by an abnormal increase in bone density, making bones brittle and prone to fractures.

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What is 'chondrodysplasia'?

Chondrodysplasia refers to a group of disorders affecting cartilage growth, leading to various bone abnormalities and skeletal dysplasias.

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What is 'ectodermal dysplasia'?

Ectodermal dysplasia is a group of disorders affecting tissues derived from the ectoderm layer during embryonic development, resulting in various developmental abnormalities, including tooth, hair, and nail abnormalities.

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What is 'intellectual disability'?

Intellectual disability refers to a condition characterized by significant limitations in intellectual functioning and adaptive behavior, beginning before the age of 18.

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What is 'facial dysmorphology'?

Facial dysmorphology refers to distinctive facial features that differ from the typical appearance, often found in certain genetic syndromes.

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What is 'platyspondyly'?

Platyspondyly refers to a condition where the vertebral bodies of the spine are abnormally flattened.

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What is 'polydactyly'?

Polydactyly is a condition characterized by the presence of extra fingers or toes.

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Study Notes

Genetic Dental Disorders

  • Dental anomalies are common in genetic disorders, acting as diagnostic markers.
  • A classification system for genetic dental disorders was created to aid diagnosis.
  • Definitions for common dental signs were developed through discussion among experts.
  • The classification is based on the "TÊTECOU" network, which focuses on head and neck disorders.

Defining Dental Anomalies

  • Analysis of existing terminology from databases (e.g., HPO, Orphanet) was used.
  • The definitions supersede previous ones in similar morphology series.
  • The classification prioritizes the dental anomaly, followed by other related medical features.
  • Causative genes and links to OMIM and Orphanet nomenclatures are included.

Dental Anomaly Nosology(Table 1)

  • The table details 408 different dental conditions.
  • It lists the phenotype, MIM number, Orphanet number, inheritance pattern, corresponding genes, proteins, and associated clinical features for each condition.
  • Various inheritance patterns (autosomal dominant, autosomal recessive, X-linked, etc.) are represented.
  • Multiple genes and associated proteins are implicated in causing these conditions.

Tooth Anatomy and Morphology

  • The oral cavity encompasses maxilla, mandible, muscles, glands, and related structures involved in oral functions.
  • The oral cavity includes mucosa, tongue, teeth (crown, root, cementum), and periodontal tissues.
  • Different types of oral mucosa exist (lining, masticatory, specialized).
  • Dentition includes deciduous (primary) and permanent teeth.
  • Deciduous have 20 teeth, and permanent have 32 teeth.
  • FDI and ISO systems classify teeth based on location and type (incisors, canines, premolars, molars).
  • The normal anatomy of teeth structures (crown, pulp, root and cementum), and associated supporting tissues is detailed.

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Description

This quiz explores an advanced classification system specifically created for dental disorders, highlighting the relationships between various dental anomalies and their causal genes. It emphasizes the syndromic disorders within the system and discusses the role of the French collaborative network 'TÊTECOU'. Dive into the nuances of enamel and dentin issues and how they are categorized.

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