Trichorhinophalangeal syndrome

Abstract

Trichorhinophalangeal syndrome (TRPS) is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome

“…Additionally the joints are lax and there are multiple exostoses. Spontaneous bone fractures have been described in these patients [14,15]. It is very important that attention be paid to careful positioning and padding of pressure areas.…”

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome

“…In this setting, differential diagnosis of NBS mainly includes Coffin-Siris, tricho-rhino-phalangeal, and cardio-facio-cutaneous syndromes, and trichothiodystrophy (Table II). [7][8][9][10] An accurate evaluation of the clinical history, and of the facial, heart, and hand anomalies, drives the clinician toward the most probable diagnosis. However, examination of the skin and adnexa (especially, hair and nails) is of utmost importance to confirm the initial suspicion (Table II).…”

Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I

“…Besides musculoskeletal care, patients with tricho-rhino-phalangeal syndrome must be followed up for the development of endocrine abnormalities such as hypothyroidism, growth hormone deficiency, and idiopathic hypoglycemia. 5 Experimental studies have permitted evaluation of TRPS1 specific role in kidney development. Newborn mice TRPS1 −/− have shortened long bones and incompletely formed phalangeal joints.…”