Waardenburg syndrome type 3

Waardenburg syndrome type 3, also known as Klein-Waardenburg syndrome, is a rare subtype of Waardenburg syndrome that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

Key Features:

• Congenital sensorineural hearing loss
• Pigmentary abnormalities of the hair, skin, and eyes
• Upper limb abnormalities, such as dystopia canthorum (lateral displacement of the ocular inner canthi) and bone growth abnormalities of the hands and arms

Waardenburg syndrome type 3 is caused by genetic mutations, also known as pathogenic variants, which can be hereditary or occur sporadically. It is a very rare subtype of Waardenburg syndrome, with only a few reported cases in medical literature.

References:

• [4] describes Waardenburg syndrome type 3 as a very rare subtype of Waardenburg syndrome that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
• [5] states that Waardenburg syndrome type III (WS3) may result from certain mutations of the PAX3 gene that may be inherited as an autosomal dominant trait or occur sporadically.
• [11] defines Waardenburg syndrome type 3 as an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities.

Waardenburg syndrome type 3, also known as Klein-Waardenburg syndrome, is a rare subtype of Waardenburg syndrome that is characterized by limb anomalies in association with congenital sensorineural hearing loss, hypopigmentation abnormalities of irides, hair and skin, and minor facial features.

Primary Features:

• Limb anomalies, predominantly involving upper limbs, with hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylia
• Congenital sensorineural hearing loss
• Hypopigmentation abnormalities of irides, hair and skin
• Minor facial features

Additional Symptoms:

• Finger abnormalities, such as fused fingers
• Abnormalities of the arms, including hypoplasia or underdeveloped muscles
• Cleft lip (rare)
• Constipation
• Deafness (more common in type II disease)
• Extremely pale blue eyes or eye colors that don't match (heterochromia)

Types and Characteristics:

• Type 3 is also known as Klein-Waardenburg syndrome.
• Symptoms vary substantially within types, but Type 3 tends to be the most debilitating.
• In addition to the typical symptoms of Waardenburg syndrome, people with type 3 may experience finger abnormalities, such as fused fingers, and of the arms.

Causes:

• Genetic mutations, also known as pathogenic variants, can cause Waardenburg syndrome type 3.
• Some instances of WSIII are inherited as autosomal recessive traits, meaning two copies of the affected gene are required to be inherited from each parent for the syndrome to develop.

References:

[8] - Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital sensorineural hearing loss, hypopigmentation abnormalities of irides, hair and skin, and minor facial features. [9] - Symptoms · Cleft lip (rare) · Constipation · Deafness (more common in type II disease) · Extremely pale blue eyes or eye colors that don't match (heterochromia) [10] - Type III (Klein-Waardenburg syndrome): Hearing loss, skin pigmentation changes and bone growth abnormalities of your hands and arms. [11] - The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information. [12] - On the other hand, some instances of Waardenburg syndrome type 3 (WSIII) and type four (WS4) are inherited as autosomal recessive traits, meaning two copies of the affected gene are required to be inherited from each parent for the syndrome to develop.

Diagnostic Tests for Waardenburg Syndrome Type 3

Waardenburg syndrome type 3 (WS3) is a rare genetic disorder characterized by pigmentary abnormalities, congenital sensorineural hearing loss, and upper limb anomalies. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Audiometry: A hearing test that measures the ability to hear different frequencies and volumes. This test can help identify congenital sensorineural hearing loss associated with WS3 (see [2], [8]).
• Genetic testing: Molecular genetic analysis of the genes responsible for Waardenburg syndrome, such as the PAX3 gene, can confirm the diagnosis of WS3 (see [10], [15]). This test may involve polymerase chain reaction (PCR) and DNA sequencing.
• Physical examination: A thorough physical exam by a dermatologist, ophthalmologist, or geneticist can help identify pigmentary abnormalities, eye anomalies, and upper limb malformations associated with WS3 (see [11], [12]).
• Imaging studies: X-rays or other imaging tests may be ordered to evaluate the extent of upper limb anomalies, such as hypoplasia of the musculoskeletal system, flexion contractures, or fusion of carpal bones (see [12]).

Additional Tests

Other diagnostic tests that may be performed in conjunction with these primary tests include:

• Eye exam: To assess for eye abnormalities, such as hypopigmentation of irides, hair, and skin (see [2], [11]).
• Bowel transit time: A test to evaluate the movement of food through the digestive system, which may be affected in individuals with WS3 (see [8]).

Citation

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Differential Diagnosis of Waardenburg Syndrome Type 3

Waardenburg syndrome type 3 (WS3), also known as Klein-Waardenburg syndrome, is a rare genetic disorder characterized by hearing loss, skin pigmentation changes, and bone growth abnormalities. When diagnosing WS3, it's essential to consider other conditions that may present similar symptoms.

Conditions to Consider:

• Usher Syndrome: A genetic disorder that affects the eyes (progressive retinitis pigmentosa) and ears (