Fraccaro achondrogenesis
Fraccaro Achondrogenesis[edit | edit source]
Fraccaro Achondrogenesis, also known as Achondrogenesis type 1A, 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 most severe forms of achondrogenesis, a group of disorders that affect cartilage and bone development.
Etiology[edit | edit source]
Fraccaro Achondrogenesis is caused by mutations in the TRIP11 gene, which encodes the Golgi microtubule-associated protein 210 (GMAP-210). This protein is essential for the normal functioning of the Golgi apparatus, a critical component of the cell's machinery for processing and transporting proteins and lipids.
Clinical Features[edit | edit source]
Infants with Fraccaro Achondrogenesis present with extreme micromelia (shortened limbs), a small chest, and a protuberant abdomen. Other features include:
- Severe hypoplasia of the lungs
- Hydrops fetalis, a condition characterized by an abnormal accumulation of fluid in the fetus
- Polyhydramnios, an excess of amniotic fluid during pregnancy
Diagnosis[edit | edit source]
Diagnosis is typically made prenatally through ultrasound, which may reveal the characteristic skeletal abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the TRIP11 gene.
Pathophysiology[edit | edit source]
The mutation in the TRIP11 gene leads to a deficiency in GMAP-210, disrupting the normal function of the Golgi apparatus. This disruption affects the synthesis and transport of proteins necessary for cartilage and bone development, leading to the severe skeletal abnormalities observed in this condition.
Management[edit | edit source]
There is currently no cure for Fraccaro Achondrogenesis. Management is supportive and focuses on addressing the symptoms and complications associated with the condition. Due to the severity of the disorder, most affected infants do not survive beyond the neonatal period.
Genetic Counseling[edit | edit source]
Fraccaro Achondrogenesis is inherited in an autosomal recessive manner. Genetic counseling is recommended for families with a history of the condition to discuss the risks of recurrence in future pregnancies.
Research Directions[edit | edit source]
Research is ongoing to better understand the molecular mechanisms underlying Fraccaro Achondrogenesis and to explore potential therapeutic approaches. Advances in gene therapy and stem cell research may offer hope for future treatments.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Fraccaro achondrogenesis is a rare disease.
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Contributors: Prab R. Tumpati, MD
