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Inclusion Criteria
- Microtia affecting both ears (includes unilateral microtia with pre auricular tags or pits affecting the contralateral side) - Normal microarray - Ifpre auricularpits,renal scan and EYA1/SIX1 testing should be done
Exclusion Criteria
- Maternal diabetes - Treacher-Collins syndrome and EFTUD2 clinically - The following syndromes should also be excluded clinically,unless mutationanalysishas been performed and is negative: LAMMsyndrome (labrytinthine aplasia, microtia and microdontia), BOR syndrome, BOF syndrome, Fraser syndrome, Miller syndrome, Nager syndrome, LADD syndrome, Meier Gorlin syndrome and Townes Brocks syndrome.
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
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - Where the phenotype is recognisable and is caused by 1-2 principle genes, these should have been tested prior to recruitment
Closing Statement
These requirements will be kept under continual review during the main programme and may be subject to change.
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Asymmetry of the ears
An asymmetriy, i.e., difference in size, shape or position between the left and right ear.
Abnormal location of ears
Abnormal location of the ear.
Abnormality of brain morphology
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Epibulbar dermoid
An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Abnormality of the eye
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Abnormality of the vertebrae
An abnormality of one or more of the vertebrae. Comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
Branchial sinus
A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. Comment: Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
Crumpled ear
Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. Comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
Microtia
Underdevelopment of the external ear. Comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
Cryptotia
Invagination of the superior part of the auricle under a fold of temporal skin. Comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.
Abnormality of the genitourinary system
The presence of any abnormality of the genitourinary system.
Anotia
Complete absence of any auricular structures. Comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression.
Micrognathia
Developmental hypoplasia of the mandible. Comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.
Cupped ear
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
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).
Abnormality of the cochlear nerve
Conductive hearing impairment
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Comment: A conductive hearing impariment with greater than 90 dB loss.
Abnormality of cochlea
An abnormality of the cochlea. Comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
Morphological abnormality of the vestibule of the inner ear
A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
Preauricular pit
Small indentation anterior to the insertion of the ear. Comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
Macrotia
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
Facial asymmetry
An abnormal difference between the left and right sides of the face.
Microtia, first degree
Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.
Microtia, third degree
Presence of some auricular structures, but none of these structures conform to recognized ear components. Comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia.
Microtia, second degree
Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
Abnormality of the middle ear ossicles
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
Morphological abnormality of the semicircular canal
An abnormality of the morphology of the semicircular canal.
Polyotia
The presence of an extra auricle on one or both sides of the head.
Preauricular skin tag
A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Abnormality of the kidney
An abnormality of the kidney. Comment: The kidney is a paired organ whose primary function is the production of urine.
Abnormal heart morphology
Any structural anomaly of the heart.
Abnormality of the helix
An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
Abnormality of earlobe
An abnormality of the lobule of pinna.
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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