Summary about Disease
Yamaguchi craniodigital syndrome type 2 (YCDS2) is a very rare genetic disorder characterized by distinctive facial features and abnormalities of the hands and feet. It involves a combination of skull (cranio-) and limb (-digital) malformations. It's a distinct entity from other craniodigital syndromes. Due to its rarity, the exact range and natural history are still being defined.
Symptoms
Symptoms can vary in severity and presentation. Common features include:
Craniofacial: Distinctive facial features like hypertelorism (widely spaced eyes), depressed nasal bridge, down-slanting palpebral fissures (eyelids), and midface hypoplasia (underdevelopment).
Limb: Abnormalities of the hands and feet may include syndactyly (fused fingers or toes), brachydactyly (short fingers or toes), and postaxial polydactyly (extra digits on the outer side of the hand or foot).
Other: Some individuals may have additional features, which vary from case to case and are not always well-defined in the published literature.
Causes
YCDS2 is caused by mutations in the _FREM1_ gene. _FREM1_ provides instructions for making a protein that plays a role in the formation of various tissues and organs during development. Mutations in this gene disrupt this process, leading to the characteristic features of the syndrome. It is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
There is no specific "medicine" that cures YCDS2. Treatment focuses on managing the individual symptoms and complications. This may involve:
Surgical interventions: To correct craniofacial abnormalities or limb malformations (e.g., syndactyly release, polydactyly removal).
Orthotics: To improve function and support affected limbs.
Physical therapy: To improve motor skills and strength.
Other supportive therapies: To address any other associated health concerns.
Is Communicable
No, YCDS2 is not communicable. It is a genetic disorder caused by a gene mutation and is not caused by infectious agents.
Precautions
Since YCDS2 is a genetic condition, there are no specific precautions to prevent it in individuals who do not carry the mutated gene. For families with a known history of YCDS2, genetic counseling and prenatal testing may be considered.
How long does an outbreak last?
YCDS2 is not an infectious disease, thus outbreaks are not applicable. It's a genetic condition affecting individuals from birth.
How is it diagnosed?
Diagnosis typically involves:
Clinical evaluation: Assessment of the individual's physical features and medical history.
Radiological studies: X-rays to evaluate skeletal abnormalities of the skull, hands, and feet.
Genetic testing: Molecular genetic testing of the _FREM1_ gene to confirm the diagnosis by identifying disease-causing mutations.
Timeline of Symptoms
Symptoms are typically present at birth. The timeline of symptom progression beyond infancy is not well-defined in the literature due to the rarity of the condition. Surgical interventions and therapies may be implemented in infancy or childhood to address specific issues.
Important Considerations
Due to the rarity of YCDS2, information is limited, and the full spectrum of the disorder may not be completely understood.
Management requires a multidisciplinary approach involving specialists such as geneticists, craniofacial surgeons, orthopedic surgeons, and therapists.
Genetic counseling is essential for families affected by YCDS2 to understand the inheritance pattern and recurrence risk.
Support groups can be helpful for families.