About trichorhinophalangeal syndrome type i

What is trichorhinophalangeal syndrome type i?

Trichorhinophalangeal syndrome type I (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin, sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally small jaw (micrognathia), dental anomalies, and/or unusually large (prominent) ears. In most cases, the fingers and/or toes may be abnormally short (brachydactyly) and curved. In addition, affected individuals may exhibit short stature. The range and severity of symptoms may vary from case to case. In most cases, Trichorhinophalangeal syndrome type I has autosomal dominant inheritance.

What are the causes for trichorhinophalangeal syndrome type i?

TRPS I is caused by mutations in the TRPS1 gene. This gene provides instructions for making a protein that is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) the activity of certain genes. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and other skeletal tissues.

TRPS1 gene mutations lead to the production of an altered TRPS1 protein. The altered protein has a reduced ability to control the activity of genes that regulate the growth of bone and other tissues, leading to abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS I.

A condition similar to TRPS I is caused by the loss of the TRPS1 gene and its neighboring genes. This condition, called trichorhinophalangeal syndrome type II (TRPS II), has many of the same signs and symptoms of TRPS I, as well as multiple benign (noncancerous) bone tumors called osteochondromas and intellectual disability. These additional features are associated with the loss of genes near TRPS1.

What are the treatments for trichorhinophalangeal syndrome type i?

The genetic multisystem disorder trichorhinophalangeal syndrome type 1 (TRPS1) is incredibly rare. Thin, sparse hair on the scalp, peculiar facial characteristics, malformed fingers and/or toes, and numerous abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), particularly in the hands and feet, are all traits of TRPS1.

A rounded (bulbous) "pear-shaped" nose, an excessively small jaw (micrognathia), dental anomalies, and/or extremely large (prominent) ears are some examples of distinguishing facial traits. The fingers and/or toes may typically be excessively short and bent (brachydactyly).

Affected individuals may also be small in stature. Symptoms can differ in type and severity from case to case. Trichorhinophalangeal syndrome type I often has an autosomal dominant inheritance pattern.

Treatment available for trichorhinophalangeal syndrome type 1

1. The symptoms that each person exhibits are what is targeted for the treatment of trichorhinophalangeal syndrome type 1.
2. The coordinated efforts of a group of professionals may be necessary throughout treatment.
3. Pediatricians, dental specialists, speech therapists, orthopedic surgeons, dermatologists, and other medical specialists may be required to systematically and thoroughly organize an affected child's treatment.
4. Trichorhinophalangeal syndrome type I-specific medicines are symptomatic and supportive in nature. Skeletal anomalies may be treated and/or corrected using a variety of orthopedic procedures, including surgery.
5. In some circumstances, further therapeutic and/or supportive interventions may be required.
6. Affected individuals and their families may benefit from genetic counseling.

Symptoms
Fingers or toes are abnormally shaped in cone,Distinctive facial features, Fingernails and toenails are exceptionally thin and formed
Conditions
Hip dysplasia,Bone and joint malformations
Drugs
Physical therapy,Surgery

Is there a cure/medications for trichorhinophalangeal syndrome type i?

TRPS I, also known as trichorhinophalangeal syndrome type 1, is a disorder that results in abnormalities of the skin, hair, teeth, sweat glands, and nails as well as malformations of the bones and joints. The name of the condition refers to some of the parts of the body that are frequently affected: the fingers, toes, and hair (tricho-, rhino-) (phalangeal).

The ends (epiphyses) of one or more bones in the fingers or toes are abnormally cone-shaped in patients with trichorhinophalangeal syndrome type 1. The fingernails and toenails are frequently thin and deformed unnaturally. People that are affected frequently have little feet.

Cure or medication for trichorhinophalangeal syndrome type 1

1. There is no cure available for trichorhinophalangeal syndrome type 1 but patients can seek help through the treatments.
2. The symptoms that each person exhibits are what is targeted for the treatment of trichorhinophalangeal syndrome type 1.
3. The coordinated efforts of a group of professionals may be necessary throughout treatment.
4. Pediatricians, dental specialists, speech therapists, orthopedic surgeons, dermatologists, and other medical specialists may be required to systematically and thoroughly organize an affected child's treatment.
5. Trichorhinophalangeal syndrome type 1-specific medicines are symptomatic and supportive in nature.
6. Skeletal anomalies may be treated and/or corrected using a variety of orthopedic procedures, including surgery.
7. In some circumstances, further therapeutic and/or supportive interventions may be required.

Symptoms
Fingers or toes are abnormally shaped in cone,Distinctive facial features, Fingernails and toenails are exceptionally thin and formed
Conditions
Hip dysplasia,Bone and joint malformations
Drugs
Physical therapy,Surgery

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