Ugrás a tartalomhoz
Használja fel HSA- vagy FSA-keretét

Betegségjelentés · Musculoskeletal

Short-Rib Thoracic Dysplasia 7 (WDR35)

Whole genome sequencing reads the WDR35 gene for changes in both copies that cause short-rib thoracic dysplasia 7, a skeletal ciliopathy that can make breathing difficult in infancy.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

A Premium és a Premium + AI csomagban benne van

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal

A(z) condition ismertetése

A rare skeletal ciliopathy causing short ribs and a narrow chest, short limbs and sometimes extra fingers or toes, which can affect breathing. It is caused by changes in both copies of the WDR35 gene.

Short-rib thoracic dysplasia 7 is a rare skeletal condition in which short ribs make the chest narrow. People can also have short limbs and sometimes extra fingers or toes. Short ribs and a narrow chest are typical and can be seen on prenatal scans. Breathing difficulty can be severe and life-threatening in infancy.

The condition is caused by changes in both copies of WDR35. This gene is needed for proteins to be transported within cilia, the small hair-like structures on cells. When cilia do not work properly, signalling that controls bone and organ development is disrupted. Kidney, liver, heart and brain differences can also occur, and WDR35 changes can cause cranioectodermal dysplasia.

The condition is inherited in an autosomal recessive way. Parents are carriers, each future child has a 1 in 4 chance of being affected, and carrier and prenatal testing can be offered. Care focuses on breathing support and respiratory monitoring, with kidney, liver and eye checks in survivors and orthopaedic input where needed.

A vizsgált betegség

Short-Rib Thoracic Dysplasia 7 With or Without Polydactyly

Autoszomális recesszív

This condition is caused by changes in both copies of WDR35, which is needed for transport of proteins within cilia. Faulty cilia disrupt signalling that controls bone and organ development. WDR35 changes also cause cranioectodermal dysplasia.

Tünetek és jelek

Short ribs and a narrow chest, short limbs and sometimes extra fingers or toes are typical, and can be seen on prenatal scans. Breathing difficulty from the small chest can be severe and life-threatening in infancy. Kidney, liver, heart and brain differences can also occur.

Mit változtat a diagnózis

Care focuses on breathing support and respiratory monitoring, with kidney, liver and eye surveillance in survivors and orthopaedic input. Genetic counselling is recommended; parents are carriers, each future child has a 1 in 4 chance of being affected, and carrier and prenatal testing can be offered.

Vizsgált gének

Más néven

short rib-polydactyly syndrome type 5; SRPS5; SRTD7

MONDO:0013569OMIM 614091Orphanet 498497MedGen 481422Források: [1][3][4][2]

Miért a teljes genom szekvenálás

Short-rib thoracic dysplasia 7 is inherited from two carrier parents, so the gene result can guide future pregnancies.

Checks across several organs

WDR35 changes can cause short-rib thoracic dysplasia and also cranioectodermal dysplasia, a related condition with skull, skin and tooth features. Knowing the gene helps the care team decide which checks are needed. Kidney, liver and eye surveillance is used in those who survive infancy.

Prenatal and carrier testing

Parents are carriers, and each future child has a 1 in 4 chance of being affected. Once the WDR35 changes are known, carrier testing for relatives and prenatal testing can be offered. Genetic counselling helps families plan.

Hivatkozások

  1. Zhuang J, Wang J, Huang Z, Chen Y, Chen C, 2025. Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly. Frontiers in pediatrics
  2. Asphyxiating thoracic dystrophy. MedlinePlus Genetics
  3. Mill P, Lockhart PJ, Fitzpatrick E, Mountford HS, Hall EA, Reijns MA et al., 2011. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. American journal of human genetics
  4. Tan W, Lin A, Keppler-Noreuil K, 2013. Cranioectodermal Dysplasia. GeneReviews

További musculoskeletal 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.

449 $-tól

Ingyenes szállítás · Eredmények 6–8 hét alatt

A Premium első évre készletenként 99 $ díjjal jár.

Rendelés Premium csomaggal