Which are the symptoms of Robinow syndrome?

Symptoms of Robinow Syndrome

Robinow syndrome is a rare genetic disorder that affects various parts of the body, leading to distinct physical characteristics and potential health complications. The symptoms of Robinow syndrome can vary in severity and may present differently in each affected individual. However, there are several key features commonly associated with this condition.

Facial Features:

One of the most noticeable characteristics of Robinow syndrome is the distinct facial appearance. Individuals with this condition often have a shortened vertical distance between the upper lip and nose, known as a short philtrum. Additionally, they may have a prominent forehead and widely spaced eyes (hypertelorism). The bridge of the nose may be flat or depressed, and the nostrils can be upturned. The lower jaw may also be underdeveloped (micrognathia).

Skeletal Abnormalities:

Robinow syndrome is characterized by various skeletal abnormalities, which can affect both the long bones and the spine. Individuals with this condition may have shortened limbs and short stature. The hands and feet may exhibit brachydactyly (short fingers and toes) and clinodactyly (abnormal curvature of the fingers). Additionally, there may be fused or missing ribs, abnormal curvature of the spine (scoliosis), or vertebral anomalies.

Genital and Urinary Abnormalities:

Robinow syndrome can also affect the genitalia and urinary system. In males, there may be underdevelopment of the testes (hypogonadism) and undescended testicles (cryptorchidism). Females may have abnormalities of the uterus and ovaries. Both males and females may experience urinary tract abnormalities, such as malformed kidneys or obstructed urinary tract.

Growth and Development:

Children with Robinow syndrome may exhibit delayed growth and development. They may have short stature and experience delayed bone age, meaning their bones may appear younger than their chronological age. Intellectual disability can also be present in some individuals with this condition, although the severity can vary widely.

Other Features:

Additional features that may be observed in individuals with Robinow syndrome include heart defects, such as atrial septal defects or ventricular septal defects. There may also be abnormalities of the eyes, such as strabismus (crossed eyes) or optic nerve hypoplasia. Some individuals may have feeding difficulties during infancy, which can lead to failure to thrive.

It is important to note that the symptoms and severity of Robinow syndrome can vary widely among affected individuals. Some individuals may have mild features and experience minimal health complications, while others may have more pronounced physical characteristics and face significant medical challenges. Early diagnosis and appropriate medical management can help address the specific needs of individuals with Robinow syndrome and improve their overall quality of life.