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Betegségjelentés · Neurological

Skraban-Deardorff Syndrome (WDR26)

Whole genome sequencing reads the WDR26 gene for the changes that cause Skraban-Deardorff syndrome, a neurodevelopmental condition with developmental delay, seizures and an unsteady walk.

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A(z) condition ismertetése

A neurodevelopmental condition causing developmental delay, intellectual disability, seizures and an unsteady walk, often with a cheerful demeanour. It is caused by changes in one copy of the WDR26 gene.

Skraban-Deardorff syndrome is a neurodevelopmental condition that causes developmental delay and intellectual disability, with marked speech delay. Children often have low muscle tone, seizures, including fever-related seizures, and an unsteady, ataxic walk. Many are described as happy and sociable, with characteristic facial features, and infant feeding difficulties are also reported.

It is caused by changes in one copy of WDR26, a subunit of the CTLH complex, a group of proteins that tags other proteins for breakdown. Most of the changes stop the gene from working properly, and reported cases have almost always arisen new.

It is inherited in an autosomal dominant way. If the change cannot be found in either parent, the estimated recurrence risk to siblings is about 1%. Care includes developmental and speech support, feeding and gait monitoring, and seizure treatment when needed, with genetic counselling and parental testing used to clarify the risk.

A vizsgált betegség

Autoszomális domináns

Caused by changes in one copy of the WDR26 gene, usually changes that stop it from working. Almost all reported cases arise de novo.

Tünetek és jelek

Developmental delay and intellectual disability, with marked speech delay, low muscle tone and an ataxic, unsteady walk. Seizures, including fever-related seizures, are common. Many have a happy, sociable personality and characteristic facial features. Infant feeding difficulties are also reported.

Mit változtat a diagnózis

Developmental and speech support, feeding and gait monitoring, with seizure treatment when needed. Cases are typically de novo, but genetic counselling and parental testing help clarify recurrence risk.

Vizsgált gének

Más néven

SKDEAS; WDR26-Related Disorder

MONDO:0054636OMIM 617616Orphanet 513456MedGen 1627555Források: [1][2][3]

Miért a teljes genom szekvenálás

Skraban-Deardorff syndrome almost always arises new, so parental testing is central to giving families accurate information about the risk.

Feeding and walking are monitored

In infancy, swallowing, feeding and nutrition are assessed to decide whether oral feeding is safe or a gastrostomy tube is needed. Gait is watched closely for musculoskeletal or neurological problems.

Parental testing shapes the advice

If the change is not found in either parent, the recurrence risk to siblings is estimated at about 1%. Prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing, are possible once the change is known.

Hivatkozások

  1. Skraban CM, Grand KL, Deardorff MA, 2019. WDR26-Related Intellectual Disability. GeneReviews
  2. Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V et al., 2022. Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Clinical genetics
  3. Lin X, Chen H, Zhou Y, Peng P, Lei B, Zhou S et al., 2025. WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights. European journal of medical research

További neurological conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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