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.
Fingers or toes are abnormally shaped in cone,Distinctive facial features, Fingernails and toenails are exceptionally thin and formed
Hip dysplasia,Bone and joint malformations