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Inclusion Criteria
Amelogenesis Imperfecta confirmed through clinical evaluation (including dental radiographs) by a specialist dentist with an interest in developmental enamel abnormalities.
Exclusion Criteria
Developmental enamel abnormalities attributable to other causes including Molar Incisor Hypomineralisation, iatrogenic causes (e.g. chemotherapy), severe systemic illness and fluorosis.
Prior Genetic Testing
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Genes
Amelogenesis Imperfecta confirmed through clinical evaluation (including dental radiographs) by a specialist dentist with an interest in developmental enamel abnormalities.
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Amelogenesis imperfecta
A developmental dysplasia of the dental enamel. Comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations.
Hypoplasia of dental enamel
Developmental hypoplasia of the dental enamel. Comment: Note that the term enamel dysplasia was previously used for this feature but is no longer recommended.
Hypomature dental enamel
A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. Comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin.
Hypocalcification of dental enamel
A form of hypomineralization of enamel characterized by reduced calcification.
Dental enamel pits
The presence of small depressions in the dental enamel.
Taurodontia
Increased volume of dental pulp of permanent molar. Comment: Body of the tooth and pulp chamber is enlarged.
Yellow-brown discoloration of the teeth
Anterior open bite
Overbite
Maxillary teeth cover the mandibular teeth when biting to an increased degree.
Abnormality of the hair
An abnormality of the hair.
Nail dysplasia
The presence of developmental dysplasia of the nail.
Hypoparathyroidism
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Chronic mucocutaneous candidiasis
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders.
Rickets
Cone/cone-rod dystrophy
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
Nephrocalcinosis
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.
Intellectual disability
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. Comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).
Seizures
Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. Comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
Immunodeficiency
Short stature
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).
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- General Imaging Diagnostics
General imaging diagnostics report to capture reports that aren't included in the specific subclasses. Inherits all the elements in the abstract Imaging Diagnostics class and the abstract Investigation Class.
- General Imaging Diagnostics