Hallermann-Streiff syndrome
Encyclopedia
Hallermann-Streiff syndrome (also known as the François Dyscephalic Syndrome, Hallermann-Streiff-François syndrome, Oculomandibulodyscephaly with hypotrichosis and Oculomandibulofacial syndrome) is a congenital disorder
that affects growth, cranial development, hair
growth and dental development
.
There are fewer than 200 people with the syndrome
worldwide. An organisation supporting people with the Hallermann Streiff Syndrome is the Germany based "Schattenkinder e.V."
are shorter than the average person and may not develop hair in many places, including in the facial
, leg
and pubic areas. Patients also have eye
problems including clouded eyes or reduced eye size, bilateral cataract
s and glaucoma
.
It can be associated with sleep apnea.
It can complicate intubation
.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
that affects growth, cranial development, hair
Hair
Hair is a filamentous biomaterial, that grows from follicles found in the dermis. Found exclusively in mammals, hair is one of the defining characteristics of the mammalian class....
growth and dental development
Tooth
Teeth are small, calcified, whitish structures found in the jaws of many vertebrates that are used to break down food. Some animals, particularly carnivores, also use teeth for hunting or for defensive purposes. The roots of teeth are embedded in the Mandible bone or the Maxillary bone and are...
.
There are fewer than 200 people with the syndrome
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
worldwide. An organisation supporting people with the Hallermann Streiff Syndrome is the Germany based "Schattenkinder e.V."
Presentation
Patients with this syndromeSyndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
are shorter than the average person and may not develop hair in many places, including in the facial
Face
The face is a central sense organ complex, for those animals that have one, normally on the ventral surface of the head, and can, depending on the definition in the human case, include the hair, forehead, eyebrow, eyelashes, eyes, nose, ears, cheeks, mouth, lips, philtrum, temple, teeth, skin, and...
, leg
Human leg
The human leg is the entire lower extremity or limb of the human body, including the foot, thigh and even the hip or gluteal region; however, the precise definition in human anatomy refers only to the section of the lower limb extending from the knee to the ankle.Legs are used for standing,...
and pubic areas. Patients also have eye
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
problems including clouded eyes or reduced eye size, bilateral cataract
Cataract
A cataract is a clouding that develops in the crystalline lens of the eye or in its envelope, varying in degree from slight to complete opacity and obstructing the passage of light...
s and glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
.
It can be associated with sleep apnea.
It can complicate intubation
Intubation
Tracheal intubation, usually simply referred to as intubation, is the placement of a flexible plastic or rubber tube into the trachea to maintain an open airway or to serve as a conduit through which to administer certain drugs...
.