What is Trichorhinophalangeal Syndrome

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Trichorhinophalangeal Syndrome (TRPS) is an extremely rare inherited multisystem disorder. This is an autosomal dominant malformation syndrome, which is characterized by craniofacial and skeletal abnormalities. The main features of all three subtypes, TRPS I, II and III are caused by mutation in or deletions of the TRPS1 gene on human chromosome 8.

Pathognomonic features of all three subtypes are sparse scalp hair, a bulbous tip of the nose, and cone-shaped epiphyses (CSEs) of the phalanges with general delay of bone maturation in childhood. Almost all affected individuals have a more or less short final height.

The diagnosis can often be made by means of the typical facial appearance, but the clinical examination should always include a hand radiograph to prove the delayed bone maturation and the presence of CSEs of the phalanges in children or the resulting indentation visible in the mature bones in adults. Molecular confirmation is possible in more than 85% of cases with TRPS types I or III by demonstration of TRPS1 mutations, and in all patients with TRPS type II by demonstration of a deletion of the contiguous TRPS1 and EXT1 genes. The latter patients have multiple cartilaginous exostoses in addition to the common TRPS features.

Symptoms may vary from patient to patient depending upon the size and type of chromosomal deletion. Patients with TRPS experience a lot of joint problems like laxity or stiffness, swelling lateral displacement of the patellae and overall pain in general. These medical problems are often very painful and dibilitating.TRPS can present complications at birth or in early teens. Treatment often requires a multi-disciplinary approach.

The degenerative process resemble early arthrosis. It is not uncommon for anyone suffering from TRPS to experience hip problems requiring total hip replacements, back problems, knee problems, feet problems, arthritis and osteoarthritis

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