Genetic multisystem disorder (ectodermal dysplasia)
characterized by mild postnatal growth deficiency with mental retardation,
thin hair, unusual facial features, brachydactyly, and multiple exostoses.
Tricho-Rhino-Phalangeal dysplasia type II
This 2-year-old boy with microcephaly, prominent eyebrows, sparse scalp
hair, and bulbous nose has tricho-rhino-phalangeal dysplasia type II.
Langer-Giedion Syndrome; Acrodysplasia V; Acrodysplasia
Dysostoses Syndrome; Alè-Calò Syndrome; Giedion-Langer Syndrome;
Klingmüller Syndrome; Multiple Exostoses-Mental Retardation (MEMR)
Syndrome; Trichorhino Auriculophalangeal Multiple Exostoses (TRAMPE)
Dysplasia; Trichorhinophalangeal Syndrome with Exostoses.
Postnatal growth retardation associated with mild to
moderate mental retardation and multiple cartilaginous exostoses described by A. Giedion,
a Swiss Radiologist and L. Langer, an American radiologist.
Rare. Both sexes affected equally.
Usually sporadic but some cases autosomal
dominant. Chromosome deletion extending from 8q24.11 to 8q24.13. One of the
contiguous gene syndromes (group of disorders associated with chromosomal
microdeletions or microduplications).
Contiguous gene syndrome involving loss of
functional copies of TRPS 1 and EXT 1 genes. Deletion of 8q24.13 results in
bone exostoses and mental retardation especially when large pieces of 8q
Clinical features supported by genetic analysis. Long bone
radiographs reveal cone-shaped epiphyses and the presence of exostoses.
Exostoses of bone with tendency for bone fracture
and variable growth, hyperextensible joints. Scoliosis may be present. Redundant skin.
Microcephaly, characteristic appearance with bulbous broad nose, bushy
eyebrows, sparse scalp hair, dental abnormalities. Mental retardation,
neonatal hypotonia, delayed speech development, hearing loss. Recurrent
respiratory infections. Prune-belly sequence. Ureteral reflux, persistent
cloaca, congenital nephrotic syndrome. Aplasia of epiglottis may be present.
Assessment of severity of syndrome,
previous bony problems, and degree of mental retardation. Exclusion of
respiratory infection clinically and, if indicated, by chest radiography.
Assessment of genitourinary abnormalities and referral to
exclude abnormalities may be indicated. Assessment of rare complications such as prune belly
and epiglottic aplasia must be conducted.
Premedication may be indicated if
patient is uncooperative because of mental retardation. Intravenous access
may be difficult because of the redundant skin. Careful positioning and
padding is highly recommended because of the tendency to spontaneous bone fracture.
Prophylactic antibiotics may be
indicated for respiratory or urogenital indications.
Tricho-Rhino-Phalangeal Dysplasia Type I:
Syndrome characterized by characteristic facial anomalies (bulbous nose,
cone-shaped epiphyses), high-arched palate, and horizontal groove on the
chin. Also includes hypoplastic nails and short metatarsal and metacarpal
joints. Mental retardation is not associated with this medical condition.
Carrington PR, Chen H, Altick JA: Trichorhinopharyngeal syndrome, type 1.
J Am Acad Dermatol 31(2 pt 2):331, 1994.
Jones KL: Tricho-Rhino-Phalangeal Syndrome, Jones KL (ed): Smith's Recognisable Patterns of Human Malformations. 5th ed.
Philadelphia, WB Saunders, 1997, p 250-1.
Lu FL, Hou JW, Tsai WS, et al: Tricho-rhino-pharyngeal syndrome type II ...