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Zpráva o onemocněních · Otolaryngological

Labyrinthine Aplasia, Microtia and Microdontia (LAMM)

Whole genome sequencing reads the FGF3 gene for inherited changes that cause LAMM syndrome, a form of deafness present from birth, with small outer ears and small, widely spaced teeth.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare condition present from birth in which the inner ear does not form, causing profound deafness, together with small outer ears and small, widely spaced teeth. It is caused by changes in both copies of the FGF3 gene.

Labyrinthine aplasia, microtia and microdontia, usually called LAMM syndrome, is a rare condition present from birth. The inner ear does not form, causing profound deafness, the outer ears are small, and the teeth are small and widely spaced. Growth and intelligence are usually normal.

The condition is caused by changes in both copies of FGF3, a growth factor needed for the inner ear and teeth to develop. Because the balance organs are also missing, motor milestones such as walking may be delayed in infancy.

Where the cochlea is absent, cochlear implants are not possible, and auditory brainstem implants are considered instead. Early audiological assessment and imaging guide communication support, alongside early education and dental care.

The condition is inherited in an autosomal recessive way. Parents are usually carriers, and carrier testing for relatives, genetic counselling and prenatal testing are available once the FGF3 changes are known.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of FGF3, a growth factor needed for the inner ear and teeth to develop.

Příznaky a projevy

Profound deafness from birth because the inner ear structures, including the cochlea, are absent (Michel aplasia). The outer ears are small (microtia) and the teeth are small and widely spaced (microdontia). Because balance organs are also missing, early motor milestones such as walking may be delayed.

Co se diagnózou změní

Early audiological assessment and imaging guide communication support. Because the cochlea is absent, cochlear implants are not possible; auditory brainstem implants are considered instead, alongside early education and dental care. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.

Analyzované geny

Známé také jako

congenital deafness with inner ear agenesis microtia and microdontia; Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia; deafness with labyrinthine aplasia microtia and microdontia (LAMM); LAMM syndrome; microdontia-type I microtia-deafness syndrome

MONDO:0012541OMIM 610706Orphanet 90024MedGen 342803Zdroje: [1][2][3]

Proč sekvenování celého genomu

LAMM syndrome is inherited in a recessive way, so the family's genetic change guides hearing and carrier testing. Whole genome sequencing reads FGF3 in one test.

Choosing the right hearing support

Where inner ear structures are absent, the choice of support depends on imaging, and auditory brainstem implants are considered instead of cochlear implants. Early-intervention and educational programmes for children with hearing impairment are recommended from the start.

Hearing checks for siblings

Each child of two carriers has a 1 in 4 chance of being affected, and the report recommends that sibs have a hearing screen so that any impairment is found early. Once the FGF3 changes are identified, carrier testing and prenatal testing are possible.

Reference

  1. Ordonez J, Tekin M, 2012. Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia. GeneReviews
  2. Congenital deafness with labyrinthine aplasia, microtia, and microdontia. MedlinePlus Genetics
  3. Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L et al., 2008. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clinical genetics

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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