Summary about Disease
Yamaguchi craniodigital syndrome (YCDS) is a very rare genetic disorder characterized by distinctive facial features and abnormalities of the hands and feet. The facial features may include a prominent forehead, widely spaced eyes (hypertelorism), a broad nasal bridge, and a small jaw (micrognathia). The hand and foot abnormalities often involve fused or absent fingers/toes (syndactyly/oligodactyly), and may also include malformations of the bones in the hands and feet. The severity of the syndrome can vary significantly from person to person.
Symptoms
Craniofacial:
Prominent forehead
Hypertelorism (widely spaced eyes)
Broad nasal bridge
Micrognathia (small jaw)
Cleft palate (in some cases)
Hands and Feet:
Syndactyly (fused fingers/toes)
Oligodactyly (missing fingers/toes)
Malformations of bones in hands and feet
Other:
Developmental delay (in some cases)
Learning difficulties (in some cases)
Causes
Yamaguchi craniodigital syndrome is caused by mutations in the EIF4A3 gene. *EIF4A3* is crucial for RNA processing. The syndrome follows an autosomal dominant inheritance pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder. In some cases, the mutation may be a spontaneous new mutation (de novo) in the affected individual, rather than inherited from a parent.
Medicine Used
There is no specific medicine to cure Yamaguchi craniodigital syndrome. Treatment focuses on managing the specific symptoms and complications of the disorder.
Surgery: Surgical interventions may be necessary to correct syndactyly, cleft palate, or other skeletal malformations.
Therapy: Physical therapy and occupational therapy can help improve motor skills and independence. Speech therapy may be beneficial for individuals with speech difficulties.
Other: Management of any developmental delays or learning difficulties with appropriate educational support and interventions.
Is Communicable
No, Yamaguchi craniodigital syndrome is not communicable. It is a genetic disorder.
Precautions
As Yamaguchi craniodigital syndrome is a genetic condition, there are no environmental precautions to prevent its occurrence. Genetic counseling may be beneficial for families with a history of the syndrome to assess the risk of recurrence in future pregnancies.
How long does an outbreak last?
Yamaguchi craniodigital syndrome is not an infectious disease, thus does not have outbreaks. It is a genetic condition present from birth.
How is it diagnosed?
Diagnosis of Yamaguchi craniodigital syndrome is based on a combination of:
Clinical evaluation: A thorough physical examination and assessment of the individual's symptoms and medical history.
Radiological studies: X-rays of the hands and feet to assess bone malformations.
Genetic testing: Molecular genetic testing to identify mutations in the EIF4A3 gene. This is the definitive diagnostic test.
Timeline of Symptoms
Symptoms are typically present at birth. The craniofacial features and limb malformations are noticeable from infancy. Developmental delays or learning difficulties may become apparent during early childhood.
Important Considerations
Variability: The severity of Yamaguchi craniodigital syndrome can vary significantly between individuals.
Multidisciplinary care: Affected individuals require a multidisciplinary approach to care, involving specialists in genetics, orthopedics, craniofacial surgery, developmental pediatrics, and other relevant fields.
Genetic counseling: Genetic counseling is important for families affected by the syndrome to understand the inheritance pattern and risks of recurrence.
Support groups: Connecting with other families affected by rare genetic disorders can provide valuable support and information.