Which are the symptoms of Mulvihill Smith Syndrome?

Mulvihill Smith Syndrome, also known as Mulvihill-Smith-Disease (MSS), is an extremely rare genetic disorder that affects multiple systems in the body. It was first described by Dr. William Mulvihill and Dr. David W. Smith in the 1960s. This syndrome is characterized by a combination of physical, developmental, and intellectual disabilities.

Physical Symptoms:

• Distinctive facial features: Individuals with Mulvihill Smith Syndrome may have a unique facial appearance, including a broad forehead, widely spaced eyes, a flat nasal bridge, and a small jaw.


• Growth abnormalities: Affected individuals may experience growth delays, resulting in short stature.


• Eye abnormalities: Some individuals may have vision problems, such as nearsightedness or crossed eyes (strabismus).


• Hearing loss: Sensorineural hearing loss can occur in some cases.


• Heart defects: Congenital heart defects, such as atrial septal defects or ventricular septal defects, may be present.


• Skeletal abnormalities: Certain skeletal abnormalities, including scoliosis (curvature of the spine) and joint contractures, may be observed.

Developmental and Intellectual Symptoms:

• Intellectual disability: Individuals with Mulvihill Smith Syndrome typically have varying degrees of intellectual disability, ranging from mild to severe.


• Delayed development: Children may experience delays in reaching developmental milestones, such as sitting, crawling, or walking.


• Speech and language delays: Difficulties with speech and language development are common.


• Behavioral issues: Some individuals may exhibit behavioral problems, including hyperactivity, impulsivity, and attention deficits.


• Learning difficulties: Learning disabilities, particularly in reading and math, may be present.


• Autistic-like behaviors: Some individuals may display behaviors resembling those seen in autism spectrum disorders, such as social and communication challenges, repetitive movements, and restricted interests.

Other Symptoms:

• Seizures: Epileptic seizures can occur in some individuals with Mulvihill Smith Syndrome.


• Endocrine abnormalities: Hormonal imbalances, such as growth hormone deficiency or thyroid dysfunction, may be observed.


• Genitourinary abnormalities: Some individuals may have abnormalities of the urinary tract or reproductive system.


• Immunodeficiency: A weakened immune system can make affected individuals more susceptible to infections.


• Digestive issues: Gastrointestinal problems, including feeding difficulties and constipation, may be present.

It is important to note that the symptoms and their severity can vary widely among individuals with Mulvihill Smith Syndrome. Due to its rarity, there is limited information available about the long-term prognosis and management of this condition. Early intervention and comprehensive medical care, involving a multidisciplinary team of specialists, can help address the specific needs of individuals with Mulvihill Smith Syndrome and improve their overall quality of life.