Rigid mask like face deafness polydactyly

Rigid mask-like face, deafness, polydactyly
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Rigid facial expression, hearing loss, extra fingers or toes
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Rigid mask-like face, deafness, polydactyly is a rare genetic disorder characterized by a combination of distinct physical and neurological features. This condition is primarily identified by a rigid, mask-like facial appearance, sensorineural hearing loss, and the presence of polydactyly, which is the occurrence of extra fingers or toes.

Presentation

Individuals with this condition typically present with a rigid, mask-like facial expression that is noticeable from birth. This facial rigidity can affect the ability to express emotions through facial movements. The deafness associated with this condition is usually sensorineural, indicating a problem with the inner ear or the auditory nerve. Polydactyly can affect either the hands or feet, and the extra digits may vary in size and functionality.

Genetics

The exact genetic cause of rigid mask-like face, deafness, polydactyly is not fully understood, but it is believed to be due to mutations in specific genes that are involved in facial development, auditory function, and limb formation. Genetic testing can help identify mutations that may be responsible for the condition.

Diagnosis

Diagnosis is typically made based on clinical evaluation and the presence of the characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Imaging studies, such as X-rays, may be used to assess the structure of the extra digits.

Management

There is no cure for this condition, and treatment is focused on managing symptoms and improving quality of life. Hearing aids or cochlear implants may be used to address hearing loss. Surgical intervention may be considered to remove or reconstruct extra digits if they cause functional or cosmetic concerns. Physical therapy and occupational therapy can help improve motor skills and daily functioning.

Prognosis

The prognosis for individuals with rigid mask-like face, deafness, polydactyly varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve outcomes and enhance quality of life.

Also see

• Polydactyly
• Sensorineural hearing loss
• Genetic disorders
• Congenital disorders

NIH genetic and rare disease info

• NIH info on Rigid mask like face deafness polydactyly

Rigid mask like face deafness polydactyly is a rare disease.

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