Langer-Saldino achondrogenesis
Langer-Saldino Achondrogenesis Langer-Saldino achondrogenesis, also known as achondrogenesis type 1B, is a rare and severe form of skeletal dysplasia characterized by a lack of bone development. This condition is typically lethal in the perinatal period. It is one of the subtypes of achondrogenesis, a group of disorders that affect cartilage and bone development.
Etiology[edit | edit source]
Langer-Saldino achondrogenesis is caused by mutations in the SLC26A2 gene, which encodes a sulfate transporter protein. This protein is essential for the normal development of cartilage and bone. Mutations in this gene lead to impaired sulfation of proteoglycans, which are critical components of cartilage.
Clinical Features[edit | edit source]
Individuals with Langer-Saldino achondrogenesis present with:
- Severe micromelia (shortening of the limbs)
- Short trunk
- Narrow chest
- Protruding abdomen
- Poorly ossified skull and vertebrae
- Hydrops fetalis (in some cases)
Diagnosis[edit | edit source]
Diagnosis is typically made prenatally through ultrasound, which may show characteristic skeletal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the SLC26A2 gene.
Differential Diagnosis[edit | edit source]
Langer-Saldino achondrogenesis should be differentiated from other forms of achondrogenesis, such as:
Management[edit | edit source]
There is currently no cure for Langer-Saldino achondrogenesis. Management is supportive and focuses on palliative care. Genetic counseling is recommended for affected families.
Prognosis[edit | edit source]
The prognosis for Langer-Saldino achondrogenesis is poor, with most affected individuals being stillborn or dying shortly after birth due to respiratory failure.
Research[edit | edit source]
Research is ongoing to better understand the pathophysiology of Langer-Saldino achondrogenesis and to explore potential therapeutic approaches.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Langer-Saldino achondrogenesis is a rare disease.
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Contributors: Prab R. Tumpati, MD
