Martin-Bell syndrome or marker X syndrome

A very common genetic disorder where a child gets intellectual disability or autism like features

Incidence

• Males are more affected than females.
• Males- 1 in 2500-4000 and Females 1 in 7000-8000

Signs and Symptoms

• Global Developmental Delay
• Cognitive impairment
• Speech delay
• Sensory dysfunction
• Long and narrow face
• Musculoskeletal Changes in the form of joint dislocation, scoliosis, etc
• Feeding Difficulties in the form of vomiting or persistent reflux
• Sleep disorder in the form of frequent awakening, sleep apnea, etc
• May have decreased visual acuity, nystagmus, astigmatism, and ptosis
• May have typically large and protrude ears
• May have cardiac disorder like mitral valve prolapse

Causes

• Mutation in the FMRI gene causes fragile X Syndrome
• The genetic defect is dynamic and lies at the distal end of the long arm of the X chromosome

Diagnosis Making

• DNA testing
• Karyotyping

Treatment / Management
Medical and Surgical Management

• All children with Fragile-X syndrome require specialized medical care to treat and manage the following conditions
• Gastroesophageal reflux (GER)
• Sinusitis
• Otitis media
• Hernias
• Hip dislocation
• Seizure disorder, etc

Physical Medicine / Habilitation / Therapies

• Physiotherapy
• Occupational Therapy
• Speech Therapy
• Cognitive behaviour therapy

Prognosis

• People with mild fragile X Syndrome can live independent life. Generally the life expectancy is normal. Mostly, women with fragile x syndrome live better life than male.

If you want to know more about Fragile-X Syndrome or want to consult us, please contact us at

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