Which are the symptoms of Trichorhinophalangeal Syndrome?

Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder that affects multiple parts of the body. It is characterized by distinctive facial features, skeletal abnormalities, and hair abnormalities. TRPS is divided into three types: TRPS I, TRPS II, and TRPS III, each with its own set of symptoms and severity.

TRPS I:

Facial Features: Individuals with TRPS I may have a long, narrow face, a prominent nose with a bulbous tip, a thin upper lip, and a small jaw.

Skeletal Abnormalities: Skeletal abnormalities commonly seen in TRPS I include short stature, cone-shaped epiphyses (end parts of long bones), and abnormalities in the hands and feet such as short fingers and toes, and limited joint mobility.

Hair Abnormalities: Hair in TRPS I is often sparse, thin, and slow-growing. Some individuals may have a widow's peak hairline.

TRPS II:

Facial Features: TRPS II is characterized by a round face, a bulbous nose, a thin upper lip, and a small jaw.

Skeletal Abnormalities: Similar to TRPS I, individuals with TRPS II may have short stature, cone-shaped epiphyses, and hand and foot abnormalities.

Hair Abnormalities: Hair in TRPS II is typically normal.

TRPS III:

Facial Features: TRPS III is the mildest form of the syndrome, and individuals may have subtle facial features such as a long face, a bulbous nose, and a thin upper lip.

Skeletal Abnormalities: Skeletal abnormalities in TRPS III are less severe compared to the other types. Short stature and hand and foot abnormalities may still be present.

Hair Abnormalities: Hair in TRPS III is typically normal.

Other Symptoms:

In addition to the characteristic features mentioned above, individuals with TRPS may experience other symptoms such as:

• Delayed development and intellectual disability


• Speech and language delays


• Joint problems and arthritis


• Heart defects


• Hearing loss


• Eye abnormalities


• Genital abnormalities

It is important to note that the severity and combination of symptoms can vary widely among individuals with TRPS. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges.