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$Unique_ID{BRK04285}
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$Title{Trichorhinophalangeal Syndrome}
$Subject{Trichorhinophalangeal Syndrome TRPS TRP Syndrome Langer-Giedion
Syndrome Trichorhinophalangeal Syndrome Type I Trichorhinophalangeal Syndrome
Type II Fibrodysplasia Ossificans Progressiva Trichoonytic Hidrotic Ectodermal
Dysplasia Anhidrotic Ectodermal Dysplasia Christ-Siemans Syndrome}
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Copyright (C) 1989 National Organization for Rare Disorders, Inc.

732:
Trichorhinophalangeal Syndrome

** IMPORTANT **
It is possible the main title of the article (Trichorhinophalangeal
Syndrome) is not the name you expected.  Please check the SYNONYMS listing on
the next page to find alternate names and disorder subdivisions covered by
this article.

Synonyms

     TRPS
     TRP Syndrome
     Langer-Giedion Syndrome

Disorder Subdivisions

     Trichorhinophalangeal Syndrome, Type I
     Trichorhinophalangeal Syndrome, Type II

Information on the following diseases can be found in the Related
Disorders section of this report:

     Fibrodysplasia Ossificans Progressiva
     Trichoonytic Hidrotic Ectodermal Dysplasia
     Anhidrotic Ectodermal Dysplasia (Christ-Siemans Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Trichorhinophalangeal Syndrome (TRPS), Types I and II, are forms of
Ectodermal Dysplasia.  They are primarily characterized by abnormalities of
the bones and thin, brittle hair.  Some individuals with this disorder may
not obtain normal height.  The fingers are abnormally developed and facial
appearance is unusual.  Mild to moderate retardation may occur in some cases
although some individuals with TRPS Type I have normal intelligence.  In some
patients with Type II TRPS, chromosomal abnormalities have been identified.
No such abnormalities have been found in TRPS Type I patients.

Symptoms

Trichorhinophalangeal Syndrome (TRPS), Type I, is characterized primarily by
bone and hair abnormalities.  Some of the finger joints are enlarged and the
thumbs and big toes may be shorter than normal.  Scalp hair is fine, sparse,
and brittle, and may resemble the male baldness pattern.  Some individuals
may become completely bald.  Eyebrows are thick near the nose, but extremely
thin nearer the temples.  The tip of the nose is bulbous and the upper lip is
thin with a long mid-portion.  Nails may be thin and extra teeth may be
present in some cases.  Intelligence is usually normal in patients with TRPS
Type I.

Type II TRPS is also called the Langer-Siemens Syndrome.  Facial
appearance and hair abnormalities are similar to those found in TRPS Type I.
However, spinal abnormalities may occur and fingers and toes may be shorter
than normal.  Mild to moderate mental retardation has been found in most
affected individuals, although some patients may not be mentally retarded.
Delayed onset of speech, and less frequently, hearing loss has occurred.
Loose wrinkled skin and multiple bony bumps (exostoses) develop, usually by
the third or fourth year of life, although these symptoms may be found as
early as the end of the first year.  These bumps are primarily located near
the ends of bones of the arms and legs, although other bones may also be
affected.  An increased susceptibility to respiratory infections and hip
dislocations may occur.

Causes

Trichorhinophalangeal Syndrome (TRPS), Type I, is usually inherited as an
autosomal dominant trait, although a few affected families have been found to
inherit the disorder as an autosomal recessive trait.  TRPS Type II is
believed to be genetic, although the exact mode of transmission has not yet
been determined.

(Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent.  If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms.  The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent.  Fifty percent of their children
will be carriers, but healthy as described above.  Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.)

Affected Population

All forms of ectodermal dysplasias are quite rare, and Trichorhinophalangeal
Syndrome (TRPS) is extremely rare.  Very few cases of Type I TRPS have been
identified in the United States, with no information on sex distribution.
Six males and one female have been reported with Type II TRPS in American
medical literature since this type was first identified by Langer and Giedion
in 1966.

Related Disorders

Symptoms of the following disorders can be similar to those of
Trichorhinophalangeal Syndrome.  Comparisons may be useful for a differential
diagnosis.

Fibrodysplasia Ossificans Progressiva occasionally features abnormal
fingers, toes, and/or spinal disks, broad, short necks, deafness, baldness,
and mild mental retardation.  Abnormal bone growths often occur.  This
disorder usually occurs sporadically, although some scientists believe it may
be inherited.

Trichoonytic Hidrotic Ectodermal Dysplasia is characterized by
abnormalities of the nails and hair.  nails may be thickened and scalp hair
is sparse or absent.  The palms of the hands and soles of the feet tend to
develop a hard, thickened, superficial layer.

Anhidrotic Ectodermal Dysplasia, also known as Christ-Siemens Syndrome,
is characterized by a congenital absence of sweat glands resulting in heat
intolerance.  Sparse fragile hair, and, in some cases, deformed nails, may
also develop.  mental retardation may occur, breast tissue may be absent, and
fingers may be webbed.  Smooth, finely wrinkled skin, a sunken nose, and
malformed or missing teeth may also occur.

For information on other types of ectodermal dysplasias, please choose
"ectodermal dysplasia" as your search term in the Rare Disease Database.

Therapies:  Standard

Treatment of Trichorhinophalangeal Syndrome is symptomatic and supportive.
Dentures or hearing aids may be required.  Some limb deformities and bony
growths (exostoses) may be corrected by surgery.  Agencies which provide
assistance for mentally retarded individuals may be helpful.  Genetic
counseling will be of benefit for patients and their families.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Trichorhinophalangeal Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Foundation for Ectodermal Dysplasias
     219 E. Main St.
     Mascoutah, IL  62258
     [phone]

     NIH/National Institute of Child Health and Human Development (NICHD)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

TRICHORHINOPHALANGEAL DYSPLASIA (GIDEON SYNDROME).  A CASE REPORT:  G.B.
Kuna, et al; Clin Pediatr (Phila); (January 1978, issue 17 (1)).  Pp. 96-98.

NEW CLINICAL OBSERVATIONS IN THE TRICHORHINOPHALANGEAL SYNDROME:  R.M.
Goodman, et al., J. Craniofac Genet Dev Biol (1981), issue 1(1)).  Pp. 15-29.

CLINICAL AND SCANNING ELECTRON MICROSCOPIC FINDINGS IN A SOLITARY CASE OF
TRICHORHINOPHALANGEAL SYNDROME TYPE I:  E.P. Prens, et al.; Acta Derm
Venereol (Stockh), (1984), issue 64(3)).  Pp. 2449-253.