Tricho-Rhino-Phalangeal Dysplasia Type III

An extremely rare inherited multisystem disorder characterized by fine, thin light-colored hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of epiphyses leading to skeletal dysplasia. The skeletal dysplasia is mostly observed in the hands and feet.

TRPS III; Sugio-Kajii Syndrome.

Extremely rare. Both sexes affected equally. However, of the reported cases, most affected individuals have been female. Approximately 15 cases have been reported in the medical literature

Trichorhinophalangeal Syndrome Type III is suggested as an autosomal dominant genetic transmission.

There is evidence suggesting that type III TRPS is caused by mutation in the TRPS1 gene, which is also the site of mutation in type I TRPS.

This syndrome is characteristically identified by the presence of sparse and thin hair, a beaked nose, long upper lip, and severe metacarpophalangeal shortening visible clinically and confirmed radiologically (e.g., severe shortening of metacarpals, metatarsals, and phalanges) and the abnormal development of the epiphyses of the phalangeal bones (epiphyseal coning). It is different than the Ruvalcaba Syndrome by the absence of mental retardation and microcephaly.

This medical condition is characterized by fine, brittled, thin light-colored hair, a beaked nose, and severe brachydactyly. Infants affected with this condition may exhibit several characteristic facial features, including a pear-shaped or rounded nose, hypoplastic alae nasi, an abnormally long, broad philtrum on the upper lip, a protruding upper lip, malar hypoplasia, and/or an abnormally prominent maxilla. Dental anomalies are also considered a frequent occurrence in this syndrome (e.g., malocclusion). The abnormalities of the hands and feet include brachydactyly because of an incomplete development of the metacarpals, metatarsals, and phalanges. Most affected individuals exhibit a clinodactyly (permanent fixation of the fingers). Short stature, osteochondritis, thoracic scoliosis, pectus carinatum, and/or limited movements of certain joints complete the clinical presentation.

Assessment of severity of syndrome and previous skeletal problems. Limitation in the range of motion in the hips and various joints must be evaluated. Proper assessment of the upper airway structures must be obtained because of potential limitation during direct laryngoscopy. The severity of the pectus carinatum must be assessed clinically and with chest radiograph if needed. The potential for chronic use of corticosteroids should be considered and assessed prior to surgery.

Careful positioning and padding must be considered because of the tendency to severe limitation in the range of motion. Unless there is limitation in the maxillomandibular joint and difficult direct laryngoscopy and tracheal intubation expected, the anesthetic considerations in these patients are directly dependent on the surgical procedure to be performed. A laryngeal mask airway should be available in case of failure to ventilate and/or intubate the trachea.

There are no specific pharmacological implications reported.

Ruvalcaba Syndrome: A rare inherited disorder characterized by short stature, craniofacial abnormalities, mental retardation, skeletal malformations, and/or hypoplastic genitalia. Other clinical features include microcephaly, an abnormally small and narrow nose, and the presence of palpebral fissures. Clinodactyly and/or abnormally short metacarpals and metatarsals resulting in unusually small hands and feet have been reported. Vertebral scoliosis and/or severe pectus carinatum can also be part of the clinical presentation. It has been suggested that an autosomal dominant genetic transmission is responsible for this disorder.

Tricho-Rhino-Phalangeal Dysplasia Type I: Characterized by classic facial anomalies (bulbous nose, cone-shaped epiphyses), high-arched palate, horizontal groove on the chin. Also includes hypoplastic nails, and short metatarsal and metacarpals joints. This syndrome differs from Langer-Gideon Syndrome because of the absence of mental retardation, microencephaly, multiple exostoses, musculoskeletal dysplasia, and redundant skin.

Tricho-Rhino-Phalangeal Dysplasia Type II: An extremely rare inherited multisystem disorder and characterized by fine, thin hair, unusual facial features, dwarfism, brachydactyly, “cone-shaped” epiphyseal ends and/or development of multiple exostoses projecting outward from the surfaces of all bones. Other clinical features include hyperextensible joints, hypotonia, redundant skin, and maculopapular nevi. Mild to severe mental retardation, sensorineural deafness, and delayed speech development have also been reported.