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Atelosteogenesis type 2
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Atelosteogenesis type 2

Atelosteogenesis type 2 is a severe, extremely rare genetic disorder of cartilage and bone development that typically leads to stillbirth or early neonatal death.

Overview & Symptoms

Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth, distinctive facial features, an inward- and upward-turning foot, and unusually positioned thumbs.

The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.

Frequency

Atelosteogenesis type 2 is an extremely rare genetic disorder; its incidence is unknown.

Causes

Atelosteogenesis type 2 is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2.

Associated Gene

  • SLC26A2

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • AO2
  • Atelosteogenesis de la Chapelle type
  • Atelosteogenesis, type 2
  • De la Chapelle dysplasia
  • McAlister dysplasia
  • Neonatal osseous dysplasia 1

Frequently Asked Questions

Intensive respiratory support (ventilation or CPAP) is often required because of the small chest cavity. Orthopedic consultation can address limb positioning and potential surgical interventions for severe foot or thumb anomalies. Pain control, nutritional support (often via tube feeding), and palliative care counseling are also important components of management.
The disorder is inherited in an autosomal‑recessive pattern, so each parent is a carrier. The chance of having another affected child is 25 % for each pregnancy, 50 % for a child to be an asymptomatic carrier, and 25 % for a child to be unaffected and not a carrier. Carrier testing of the parents and, if desired, pre‑implantation genetic testing can be discussed.
Severe skeletal shortening, a narrow thorax, and abnormal bone shape can be seen on a detailed fetal ultrasound or fetal MRI, but the findings are not specific. If a skeletal dysplasia is suspected, targeted genetic testing (e.g., SLC26A2 sequencing) from amniocentesis or chorionic villus sampling can confirm the diagnosis.
molecular test that sequences the SLC24A2 (SLC26A2) gene is the standard. Many laboratories offer a skeletal dysplasia panel that includes SLC26A2, which can detect point mutations and small deletions/insertions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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