Trichorhinophalangeal syndrome Type 2 (TRPS2)/ Langer-Giedion Syndrome
OMIM number: 150230
Comments closing date: 09/02/2026
Trichorhinophalangeal syndrome is a very rare disorder that affects many organs of the body. The condition involves intellectual disability, short stature due to growth delay, fine sparse hair, and distinctive facial features such as thick midline eyebrows, a broad nose, thin upper lip, and prominent ears. Skeletal abnormalities include short fingers and toes (brachydactyly), coneshaped bone ends (epiphyseal coning), and sometimes multiple bony growths (exostoses). Additional features may include joint hyper flexibility, low muscle tone, redundant skin, skin spots, microcephaly, urinary or genital anomalies, hearing loss, and delayed speech. Symptoms vary widely depending on the size of the genetic deletion. TRPS occurs due to the absence of genetic material (chromosomal deletions) on chromosome 8. The size of the deletion varies from person to person. If a parent has TRPS, there is a 50% risk for each child to inherit the condition. This is because it is an autosomal dominant disorder. Management of TRPS is supportive and involves a multidisciplinary approach. Key interventions include pain control, physiotherapy, and occupational therapy, along with growth hormone therapy for confirmed deficiency. Orthopaedic procedures for severe hip dysplasia, and bone health optimization through calcium, vitamin D, and bisphosphonates should be administered when indicated. Additional care may include dental extractions, cardiac monitoring, psychological support, and surgical removal of symptomatic osteochondromas.
