From the Research
Pena Shokeir syndrome is a rare and lethal genetic disorder characterized by multiple joint contractures, facial abnormalities, and underdeveloped lungs, typically resulting in death before or shortly after birth due to respiratory failure, as reported in the most recent study 1.
Definition and Characteristics
Pena Shokeir syndrome is a rare autosomal recessive disorder that affects fetal movement and development, leading to distinctive clinical features such as:
- Multiple joint contractures (arthrogryposis)
- Facial abnormalities, including a small jaw, low-set ears, and a flattened nose
- Underdeveloped lungs (pulmonary hypoplasia)
- Intrauterine growth restriction
- Polyhydramnios
Diagnosis and Management
Diagnosis of Pena Shokeir syndrome involves:
- Prenatal ultrasound to identify characteristic features
- Genetic testing to confirm the diagnosis
- Physical examination after birth to assess the extent of the condition Management of Pena Shokeir syndrome focuses on supportive care for any surviving infants, addressing:
- Respiratory problems
- Feeding difficulties
- Joint contractures Through a multidisciplinary approach, as highlighted in the study 2.
Types and Prognosis
There are two types of Pena Shokeir syndrome:
- Type I (Fetal Akinesia Deformation Sequence): usually lethal
- Type II (Cerebro-Oculo-Facio-Skeletal syndrome): may allow longer survival but with severe developmental issues The prognosis for Pena Shokeir syndrome is generally poor, with most cases resulting in death before or shortly after birth, as reported in the study 3.
Genetic Counseling and Recurrence Risks
Genetic counseling is crucial to inform parents about recurrence risks and management strategies for future pregnancies, as emphasized in the study 1. The syndrome is typically caused by genetic mutations that affect fetal movement and development, often inherited in an autosomal recessive pattern, meaning both parents must carry the gene mutation.