Frasier Syndrome: Unraveling the Mysteries of a Rare Genetic...

Frasier Syndrome: Unraveling the Mysteries of a Rare Genetic Condition A Closer Look

Posted 2024-09-18 10:40:58

Eye Abnormalities

Eye abnormalities are one of the most common signs of Fraser syndrome. Some common eye issues include:

- Cryptophthalmos - The eyes are covered by skin or fused shut. The eyelids may be webbed across or fused together. This prevents the eyes from opening properly.

- Exophthalmos - The eyes protrude outwards from the eye sockets abnormally.

- Microphthalmia - The eyes are smaller than normal.

- Absent lacrimal puncta - The tiny openings in the inner corners of each eye that normally drain tears are missing. This can cause tearing issues.

- Incomplete eyes - Parts of the eye like the cornea, iris, or lenses may be missing or abnormal.

Skin Defects

Frasier Syndrome often involves various defects of the skin and mucous membranes. Common skin issues include:

- Syndactyly - Partial or complete webbing of the fingers and/or toes. Skin connections may extend to the wrist or ankle.

- Dermal sinus tracts - Abnormal tunnels of skin that extend into deeper tissues or organs like the brain or spinal cord. Frasier Syndrome provide pathways for infection.

- Cryptophthalmos - The eyelids are fused together or webbed across as mentioned above.

- Cleft lip and/or palate - An opening in the lip or roof of the mouth.

- Aplasia cutis congenita - Areas of missing skin, often on the skull.

Genitourinary Abnormalities

Genitourinary defects are seen in about 80% of Fraser cases. Common abnormalities involve the kidneys and urinary system:

- Bilateral renal agenesis - The kidneys fail to develop.

- Horseshoe kidney - The kidneys are fused together forming a "horseshoe" shape.

- Multicystic dysplastic kidneys - The kidneys contain multiple fluid filled cysts and do not function properly.

- Ectopic ureters - The tubes that carry urine from the kidneys to the bladder open in the wrong place like the urinary tract or vagina.

- Cryptorchidism - One or both testes fail to descend into the scrotum in males.

- Ambiguous genitalia - Genitals that don't appear clearly male or female.

Laryngeal and Lung Issues

Breathing problems are another feature seen in many Fraser syndrome cases:

- Subglottic stenosis - Narrowing or blockage of the airway just below the vocal cords.

- Tracheoesophageal fistula - An abnormal connection between the windpipe and esophagus.

- Laryngomalacia - Floppy epiglottis or soft tissue causing airway collapse.

- Bronchomalacia - Flaccid or collapsible airways.

- Lung hypoplasia - Underdeveloped or abnormal lungs.