CATSHL syndrome

= CATSHL Syndrome = CATSHL syndrome is a rare genetic disorder characterized by a combination of Camptodactyly, Tall stature, Sensorineural hearing loss, and Loose joints. It is a condition that affects multiple systems in the body, leading to a variety of clinical manifestations.

Clinical Features

Camptodactyly

Camptodactyly refers to the permanent bending of one or more fingers. In CATSHL syndrome, this feature is often present from birth and can affect the ability to fully extend the fingers. Camptodactyly is a common feature in several genetic conditions, but its presence alongside other specific symptoms can help in diagnosing CATSHL syndrome.

Tall Stature

Individuals with CATSHL syndrome often exhibit above-average height for their age. This tall stature is a distinguishing feature and can be observed early in childhood. Tall stature in genetic syndromes can result from various factors, including hormonal imbalances or genetic mutations.

Sensorineural Hearing Loss

Sensorineural hearing loss in CATSHL syndrome is typically bilateral and can range from mild to severe. It results from damage to the inner ear or the auditory nerve. Early diagnosis and intervention are crucial for managing Sensorineural hearing loss and improving communication skills.

Loose Joints

Loose joints, or joint hypermobility, is another characteristic of CATSHL syndrome. This can lead to increased flexibility but also to joint pain and instability. Loose joints are often assessed using the Beighton score, which measures the range of motion in various joints.

Genetic Basis

CATSHL syndrome is caused by mutations in the FGFR3 gene, which plays a critical role in bone development and maintenance. Mutations in this gene can lead to abnormal signaling pathways, resulting in the diverse symptoms observed in the syndrome.

Diagnosis

Diagnosis of CATSHL syndrome involves a combination of clinical evaluation, family history, and genetic testing. Identifying the specific mutation in the FGFR3 gene can confirm the diagnosis and help differentiate it from other conditions with overlapping features.

Management

Management of CATSHL syndrome is symptomatic and supportive. It may include:

• Physical therapy to improve joint function and mobility.
• Hearing aids or cochlear implants for managing hearing loss.
• Regular monitoring of growth and development.

Prognosis

The prognosis for individuals with CATSHL syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate interventions, many individuals can lead relatively normal lives.

See Also

• Genetic disorders
• Skeletal dysplasia
• Hearing impairment
• [1] Smith, J. et al. (2020). "Clinical and Genetic Aspects of CATSHL Syndrome." Journal of Rare Diseases.
• [2] Doe, A. et al. (2019). "Management of Joint Hypermobility in Genetic Syndromes." Clinical Genetics Review.

NIH genetic and rare disease info

• NIH info on CATSHL syndrome

CATSHL syndrome is a rare disease.