Waardenburg syndrome type 1 (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
What is Waardenburg syndrome? Waardenburg syndrome is a genetic condition that causes changes to the coloring (pigmentation) of your hair, eyes and skin and can cause hearing loss in some people. Six genetic mutations cause the four types of Waardenburg syndrome, with each type categorized by its unique symptoms.
Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.
What is Noonan syndrome? Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan syndrome have normal intelligence, but some may have special educational needs or intellectual disability.
Silvery gray hair syndromes consist of three conditions: Chediak–Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde syndrome (ES).
Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia.
There are four main types of Waardenburg syndrome. The most common are type I and type II. Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are rarer. The multiple types of this syndrome result from defects in different genes.
Paris Jackson's blue eyes are due to an unnamed eye condition, which could possibly be Waardenburg syndrome. Although Baker doesn't name the condition, she does note that it doesn't impact Jackson's eyesight.
The absence of differences in the IQ level of deaf people with Waardenburg syndrome is due to the mental state variable in favor of the deaf group of those with the borderline between Gifted and Superior, but the overall IQ level of the deaf person with Waardenburg syndrome is within the lower limits (IQ = 71), which ...
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children.
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease: Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
Although a rare event, it has affected well-known historical figures, including Sir Thomas Moore and Queen Marie Antoinette of France. Early reports are substantiated by more recent cases in the scientific literature.
Woolly hair is a rare congenital abnormality of the structure of the scalp hair characterized by tightly coiled hair involving part or the entire scalp occurring in an individual of non-negroid origin. [1] It was first observed and described by Gossage in 1907 in a European family.
What is the rarest eye color? Green is the rarest eye color in the world, with only 2% of the world's population (and fewer than one out of ten Americans) sporting green peepers, according to the American Academy of Ophthalmology (AAO).
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved.
Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of ...
Summary. Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.
Clinical Description
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies.
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive, immunodeficiency disorder, exhibiting partial albinism with silvery grey hair, photosensitivity, pyoderma, hyperhidrosis, and easy bruisability.
Summary. Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat.
What causes trichothiodystrophy? Trichothiodystrophy is caused by defective DNA repair and transcription and is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene that causes trichothiodystrophy for a child to inherit the condition.