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Condition report · Musculoskeletal

Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)

Whole genome sequencing reads the DYNC2H1 gene for changes in both copies that cause Jeune asphyxiating thoracic dystrophy, a condition in which a narrow chest and short ribs can affect breathing.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

An inherited skeletal condition in which short ribs give a narrow chest that can restrict breathing in infancy, often with short limbs and later kidney, liver or eye involvement. This report covers the form caused by changes in both copies of DYNC2H1.

Jeune asphyxiating thoracic dystrophy is a rare inherited skeletal condition. Short ribs give the chest a narrow, bell shape, which can restrict breathing in infancy. Many children also have short limbs and sometimes extra fingers or toes. The condition is now more often called short-rib thoracic dysplasia, and its severity ranges from life-threatening in the newborn period to mild.

This form is caused by changes in both copies of DYNC2H1. The gene makes a motor protein that carries material along cilia, the small hair-like structures on the surface of cells, and cilia help control the signals that guide bone and organ growth. Breathing often improves as the chest grows. Kidney, liver or eye problems can develop later and need monitoring.

The condition is inherited in an autosomal recessive way. Both parents are usually carriers, so genetic counselling, carrier testing and options for future pregnancies can be discussed. Respiratory support may be needed in the newborn period, and any later kidney, liver or eye problems are monitored.

The condition we analyse

Short-Rib Thoracic Dysplasia 3 (DYNC2H1)

Autosomal recessive

Caused by changes in both copies of DYNC2H1, which encodes a motor protein needed to transport material within cilia. It is a recognised cause of Jeune asphyxiating thoracic dystrophy, now called short-rib thoracic dysplasia.

Signs and symptoms

A long, narrow chest with short ribs, which can cause breathing difficulty in infancy, together with short limbs and pelvic changes. Severity ranges from life-threatening in the newborn period to mild, and breathing can improve as the chest grows. Less often there are extra fingers or toes, and kidney disease, liver problems or retinal degeneration can develop later.

What a diagnosis changes

Respiratory support may be needed in the newborn period, and kidney, liver and eye problems that develop later may need monitoring. Both parents are usually carriers, so genetic counselling, carrier testing and options for future pregnancies can be discussed.

Genes analysed

Also known as

asphyxiating thoracic dystrophy type 3; ATD3; DYNC2H1-related short rib thoracic dysplasia; polydactyly with neonatal chondrodystrophy type 1; polydactyly with neonatal chondrodystrophy type III; polydactyly with neonatal chondrodystrophy, type 3; Saldino-Noonan syndrome; short rib polydactyly syndrome Verma Naumoff type; short rib-polydactyly syndrome Saldino-Noonan type; short rib-polydactyly syndrome type 1; short rib-polydactyly syndrome type 3; short rib-polydactyly syndrome type III; short rib-polydactyly syndrome, type 2B; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS type 1; SRPS type 3; SRPS1; SRPS2B; SRPS3; SRTD3; type I short rib polydactyly syndrome; Verma-Naumoff syndrome

MONDO:0013127OMIM 613091Orphanet 93270Orphanet 93271MedGen 19860Sources: [3][1][2][4]

Why whole genome sequencing

Jeune asphyxiating thoracic dystrophy is usually inherited from two carrier parents, so the genetic result matters for future pregnancies.

A specific result helps tell similar conditions apart

Several genes can cause a narrow chest and short ribs, and related conditions such as Ellis-van Creveld syndrome share some of these features. Finding the change in DYNC2H1 helps explain the cause. It also helps the family and their doctors decide who else should be tested.

Carrier testing and prenatal options

If both parents are carriers, each sibling of an affected child has a 1 in 4 chance of being affected. Carrier testing can be offered to at-risk relatives. Once the family's changes are known, prenatal and preimplantation genetic testing are possible.

References

  1. Asphyxiating thoracic dystrophy. MedlinePlus Genetics
  2. DYNC2H1 gene. MedlinePlus Genetics
  3. Da Silva JD, Tkachenko N, Soares AR, 2023. Ellis-van Creveld Syndrome. GeneReviews
  4. Pattani N, Elkhateeb N, Joshi A, Del Rey Jimenez JC, Barber JL, Palmrich P et al., 2025. Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes. Journal of medical genetics

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