Syndrome characterized by facial anomalies (bulbous
nose, cone-shaped epiphyses), high-arched palate, and horizontal groove on
the chin. Also includes hypoplastic nails and short metatarsal and
Rare, although more than 30 cases have been identified.
First described in 1974. Males affected more often than females.
Autosomal dominant contiguous gene syndrome,
probably the result of chromosome 8 deletion. An
autosomal recessive trait has also been suggested.
It is caused by haploinsufficiency of a specific
zinc finger protein that is putative transcription factor (TRPS I).
Clinical supported by genetic analysis. Long bone
radiographs reveal cone-shaped epiphyses.
Tendency for bone fracture and variable growth;
hyperextensible joints. Scoliosis is also present. Characteristic appearance with bulbous
broad nose, bushy eyebrows, sparse scalp hair, dental abnormalities. May
present with recurrent pulmonary infections, often associated with pectus
carinatum. Neonatal hypotonia has been reported. Micrognathia, prune-belly
sequence. Ureteral reflux, persistent cloaca, congenital nephrotic syndrome.
Rarely, but suggested, aplasia of epiglottis.
Assessment of severity of previous
bony problems, which facilitates preoperative positioning. Exclusion of
respiratory infection clinically and, if indicated, by chest radiography.
Assess airway for micrognathia and epiglottic aplasia.
Careful positioning and padding because
of the tendency to fracture. Direct laryngoscopy and tracheal intubation
might be difficult because of the micrognathia and the potential for epiglottic aplasia
or laryngeal structure deformity. Spontaneous respiration must be maintained until the
trachea has been intubated and lung ventilation is confirmed. The immediate availability
of a laryngeal mask airway in case of failure to intubate the trachea is recommended.
Fiberoptic equipment may be needed and should be available. The presence of abnormal
dentition should also be kept in mind to avoid trauma during laryngoscopy.
Prophylactic antibiotics may be
indicated for respiratory or urogenital indications.
Tricho-Rhino-Phalangeal Dysplasia type III: Genetic multisystem disorder (ectodermal dysplasia)
characterized by mild postnatal growth deficiency with mental retardation,
thin hair, unusual facial features, brachydactyly, microencephaly, multiple
exostoses, musculoskeletal dysplasia, and redundant skin.
Langer-Giedion Syndrome: Characterized by mental retardation, multiple
exostoses, peculiar facies, and loose redundant skin. It is known as one of the few
congenital contiguous gene syndromes and is present from birth. The facial features
include a bulbous nose with thickened septum and alae, wide prominent philtrum, thin
upper lips, and small mandible. During first years of life, patients are subjected to
frequent recurrent respiratory infection. Both sexes are affected with similar prevalence.
Carrington PR, Chen H, Altick JA: Trichorhinopharyngeal syndrome, type I.
J Am Acad Dermatol 31(2 pt 2):331, 1994.
Jones KL: Tricho-Rhino-Phalangeal Syndrome, in Jones KL (ed): Smith's Recognisable Patterns of Human Malformations. 5th ed.
Philadelphia, WB Saunders, 1997, p 250-1.