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