Short rib-polydactyly syndrome 3

Short rib-polydactyly syndrome 3 (SRPS3), also known as Verma-Naumoff syndrome, is a rare genetic disorder characterized by short ribs, polydactyly, and other skeletal abnormalities. This condition is one of the four types of short rib-polydactyly syndrome, each of which is distinguished by its unique genetic cause and specific physical features.

Clinical Features

The primary features of SRPS3 include short stature, short ribs, polydactyly (extra fingers or toes), and various other skeletal abnormalities. These may include a narrow chest, short limbs, and underdeveloped lungs due to the small size of the chest cavity. Other features can include heart defects, kidney abnormalities, and other organ anomalies.

Genetics

SRPS3 is caused by mutations in the DYNC2H1 gene. This gene provides instructions for making a protein that is part of a group of proteins called dyneins. Dyneins are involved in cell division, the organization of cellular structures, and the movement of structures within cells. Mutations in the DYNC2H1 gene disrupt the normal function of dyneins, leading to the abnormalities seen in SRPS3.

Diagnosis and Treatment

Diagnosis of SRPS3 is based on the presence of characteristic physical features and can be confirmed by genetic testing. Treatment is supportive and based on the specific symptoms present in each individual. This may include surgical correction of skeletal abnormalities, treatment for heart or kidney defects, and supportive care for respiratory problems.

Prognosis

The prognosis for individuals with SRPS3 is generally poor, due to the severity of the skeletal abnormalities and the associated respiratory problems. However, the prognosis can vary depending on the specific features present in each individual.

See Also

• Short rib-polydactyly syndrome
• Genetic disorder
• Polydactyly
• DYNC2H1

References

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