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$Unique_ID{BRK03801}
$Pretitle{}
$Title{Hay-Well's Syndrome}
$Subject{Hay-Well's Syndrome AEC Syndrome Ankyloblepharon-Ectodermal
Defects-Cleft Lip/Palate Hay-Wells Syndrome of Ectodermal Dysplasia
Christ-Siemens-Touraine Syndrome Hallermann-Streiff Syndrome Johanson-Blizzard
Syndrome Jorgenson's Syndrome Rapp-Hodgkins Syndrome Zanier-Roubicek Syndrome}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

880:
Hay-Well's Syndrome

** IMPORTANT **
It is possible that the main title of the article (Hay-Well's Syndrome)
is not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     AEC Syndrome
     Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
     Hay-Wells Syndrome of Ectodermal Dysplasia

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

     Christ-Siemens-Touraine Syndrome
     Hallermann-Streiff Syndrome
     Johanson-Blizzard Syndrome
     Jorgenson's Syndrome
     Rapp-Hodgkins Syndrome
     Zanier-Roubicek 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.

Hay-Well's Syndrome is one of a group of rare genetic skin disorders
known as the Ectodermal Dysplasias.  Major characteristics of this disorder
include cleft lip and/or palate, fusion of one or both eyelids together,
absent or defective nails, coarse, sparse or wiry hair, diminished ability to
sweat, and missing, widely spaced, or cone-shaped teeth.  Hay-Well's Syndrome
is inherited as a autosomal dominant trait.

Symptoms

The main features of Hay-Well's Syndrome are:

1.  Congenital Ectodermal Dysplasia - a group of skin conditions in which
the patient is born with abnormal growth or development of the skin, it's
derivatives and some organs.  The affected tissue derives primarily from the
ectodermal germ layer.  Hair and teeth are also abnormal in the ectodermal
dysplasias.

2.  Cleft lip and/or palate - a condition that occurs when the roof of
the mouth has not completely closed at birth.  This opening or fissure is due
to a failure of the upper jaw bones (maxillae) to properly fuse together
during development of the embryo.  This deformity may affect the entire roof
of the mouth (palate), or only the lip or both.  The severity of the cleft
may range from a barely visible notch to complete non-closure and deformity
of the lip and palate.

3.  Ankyloblepharon filiforme adnatum - bands of tissue causing the
eyelids to adhere or fuse together.  This may occur in one or both eyes.

4.  Mild Hypohidrosis - a condition in which the patient has a diminished
capacity to sweat due to abnormal or partial sweat glands.

5.  Dystrophic nails - a condition in which the finger and/or toe nails
do not develop normally.

6.  Abnormal hair - patients with Hay-Well's Syndrome have coarse,
sparse, wiry hair and may experience partial or total hair loss (alopecia).

7.  Hypodontia - a condition in which the patient is born with less that
the normal number of teeth.  Patients with Hay-Well's Syndrome may also have
widely spaced, cone shaped teeth with insufficient enamel.

8.  Velopharyngeal incompetence - a birth defect in the opening structure
of the throat.  The part of the mouth under the nasal passages is not
completely closed.  This condition may cause food to spit up through the nose
and a speech impairment.  In some cases velopharyngeal incompetence may occur
instead of cleft lip and/or palate.

Some (but not all) of the following additional symptoms may be present in
patients with Hay-Well's Syndrome:

9.  Maxillary hypoplasia - a condition in which the upper jaw is smaller
than normal.

10. Infections or erosions of the scalp.

11. Oval shaped face and broad nasal bridge.

12. Palmoplantar keratoderma - a horny skin condition appearing on the
palms of the hands and soles of the feet.  This condition often occurs during
adulthood.

13. Hyperpigmentation - unusual darkening of the skin due to excess
pigmentation.

14. Dry skin.

15. Photophobia - abnormal sensitivity of the eyes to light.

16. Blepharitis - inflammation of the eyelids.

17. Lacrimal Puncta - one or more of the upper or lower duct openings of
the eye are absent or underdeveloped.

18. Cupped Ears.

19. Stenosis of the ear canal - an abnormally narrow ear canal.

20. Hearing loss

Causes

Hay-Well's Syndrome may occur for no apparent reason or it may be inherited
as an autosomal dominant trait.  Human traits, including the classic genetic
diseases, are the product of the interaction of two genes, 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 other normal gene and resulting in the appearance
of the disease.  The risk of transmitting the disorder from affected parent
to offspring is fifty percent for each pregnancy regardless of the sex of the
resulting child.

Affected Population

Hay-Well's Syndrome is a very rare disorder that affects males and females in
equal numbers.  There have been approximately 12 reported cases of this
syndrome in medical literature.  The 12 reported cases were from the United
States, Canada and Great Britain.

Related Disorders

Symptoms of the following disorders can be similar to those of Hay-Well's
Syndrome.  Comparisons may be useful for a differential diagnosis:

Christ-Siemens-Touraine Syndrome is a form of ectodermal dysplasia that
is characterized by lack of development of teeth, reduced ability to sweat
resulting in heat intolerance, and loss of hair.  The face may have a bulging
forehead and chin, sunken cheeks, broad flat nose, thick lips and fine,
wrinkled skin around the eyes.  (For more information on this disorder,
choose "Ectodermal Dysplasias" as your search term in the Rare Disease
Database).

Hallermann-Streiff Syndrome is a autosomal recessive form of ectodermal
dysplasia.  It is characterized by a lack of hair on the head and
abnormalities of the teeth.  There may also be too many teeth, failure of
baby teeth to fall out, and a lack of tooth enamel.  Patients have similar
faces with narrow, small, pointed noses, small jaws, small mouth with thin
lips, a short head and bulging of the forehead.  Eye problems may include
cataracts, crossed eyes, and blue coloring in the whites of the eyes.  There
may also be a narrow high-arched palate and a delay in the growth of the
bones.  (For more information on this disorder choose "Hallermann-Streiff" as
your search term in the Rare Disease Database).

Johanson-Blizzard Syndrome is a form of ectodermal dysplasia that is
characterized by nose, scalp and hair defects, as well as a lack of teeth,
deafness, short stature, lack of motor development and malabsorption
problems.  The most striking feature of this syndrome is the beaklike
appearance of the nose.  Three-fourths of the patients have a protrusion over
the rear fontanelle of the skull at birth which gets thick and hard as the
child grows.  Their teeth are peg-shaped and they have thin hair which sweeps
up from the forehead.  Patients with Johanson-Blizzard Syndrome show marked
hearing loss from birth as well as motor and mental retardation.  Bone growth
is delayed and there may be associated intestinal, absorption and genital
defects.

Jorgenson's Syndrome is another form of ectodermal dysplasia
characterized by the inability to sweat properly, a lack of hair and tooth
growth, and unusual skin problems.  These patients do sweat but the amount is
very slight.  There is a lack of growth of eyebrows and eyelashes, and the
patient is usually bald by the teen years.  The skin is dry with fine
fingerprints (dermal ridges) on the hands and feet.  There are abnormal
amounts of cavities in the baby teeth and a lack of development of some of
the permanent teeth.  The patient usually has a long, thin nose, thin upper
lip and a long space between the nose and mouth.

Rapp-Hodgkins Syndrome is another form of ectodermal dysplasia.  The main
characteristics of this disorder are absence of the ability to sweat in
combination with cleft lip and palate, dental abnormalities and lack of hair.
Corneal opacities and other eye defects with a tendency to develop eye
infections are often present.  The ears may be large and malformed, and also
prone to infections.  Hearing and speech problems may also be associated with
this disorder.

Zanier-Roubicek Syndrome is a form of ectodermal dysplasia which is often
associated with severe overheating due to the inability to sweat.  There is
usually normal sweating, however, on the palms of the hands and soles of the
feet.  The patient usually shows a lack of hair on the head but normal
eyebrows and eyelashes.  Patients have fewer than the normal number of teeth
with yellow discoloration of the ones that are present.  The finger and toe
nails are brittle.  A lack of tearing of the eyes may also occur, as well as
underdevelopment of the breasts.  This syndrome is transmitted as an
autosomal recessive trait.

Therapies:  Standard

There is no known cure for any of the Ectodermal Dysplasias.  Treatment is
directed at the symptoms.  Certain skin creams may relieve skin discomfort.
Dentures, hearing aids, etc. may be required.  Heat and overexercise are
avoided.  Vaccines and anti-infectious agents are used to reduce infections
of the skin and respiratory tract.

Treatment of a person with cleft lip and/or palate requires the
coordination efforts of a team of specialists.  Pediatricians, dental
specialists, surgeons, speech pathologists, and psychologists must work
together in planning the child's treatment and rehabilitation.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

The palate of cleft palate patients is closed during early childhood but
difficulties may persist if the palate is excessively short in relation to
the pharynx.  Researchers are studying a teflon-glycerine paste that is
applied to the rear of the pharynx in a minor surgical procedure.  A rounder
bump or ledge is formed, bringing the pharynx and palate into the proper
relationship with each other.  The hardened paste remains in place
indefinitely; no side effects have been observed.  Children as young as eight
years old have been treated with this procedure.

For further information on this procedure for cleft palate contact:

     William N. Williams, D.D.S.
     University of Florida College of Dentistry
     Box J-424
     Gainsville, FL 32610
     [phone]

The National Institute of Dental Research in Bethesda, MD, is conducting
a research project to evaluate dental treatment of individuals who have
Ectodermal Dysplasias.  Treatment will consist of either conventional
removable dentures or fixed dentures supported by dental implants.  The
project is designed to evaluate the effect of dental implants on such things
as satisfaction with treatment, the ability to chew foods, and maintenance of
the bone that supports the dentures.  To be eligible to participate in this
study, individuals must have one of the ectodermal dysplasias, be missing
several teeth, and be between the ages of twelve and seventy years.  A
complete oral and dental examination will be provided to determine if an
individual qualifies for the five year study.  Financial aid is expected to
be available to help defray travel and lodging expenses for trips to
Bethesda, MD.  For additional information, physicians can contact:

     Albert D. Guckes, M.D.
     Dental Clinic, NIDR
     Bldg. 10, Rm. 6S-255
     National Institutes of Health
     Bethesda, MD 20892
     [phone] or 2944

This disease entry is based upon medical information available through
January 1992.  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 Hay-Well's Syndrome, please contact:

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

     National Foundation for Ectodermal Dysplasias
     108 North First, Suite 311
     Mascoutah, IL 62258
     [phone]

     NIH/National Arthritis and Musculoskeletal and Skin Disease Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]
     American Cleft Palate Cranial Facial Association
     1218 Granview Ave.
     Pittsburgh, PA 15211
     [phone]
     (800) 24CLEFT

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     National Cleft Palate Association
     2950 Hearne Ave
     Shreveport, LA  71103
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     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

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp.  71.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 254.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 599-96.

VARIABLE EXPRESSION IN ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP AND
PALATE SYNDROME:  S.L. Green, et al.; Am J Med (May, 1987, issue 27(1)).  Pp.
207-12.

AEC SYNDROME:  ANKYLOBLEPHARON, ECTODERMAL DEFECTS, AND CLEFT LIP AND
PALATE.  REPORT OF TWO CASES:  J. Spiegel, et al.; J Am Acad Dermatol (May,
1985, issue 12(5 PT 1)).  Pp. 810-15.