Short answer · Medically reviewed summary · Last updated: 2023-07-13
LADD syndrome, also known as Lenz-Majewski syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a range of physical and developmental abnormalities. Physical features: Individuals with LADD syndrome may exhibit distinctive facial characteristics such as a prominent forehead, widely spaced eyes, a broad nasal bridge, and a small chin.
What is LADD syndrome
What is LADD syndrome? Plain-language, medically reviewed definition plus the lived reality told by patients.
LADD syndrome, also known as Lenz-Majewski syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a range of physical and developmental abnormalities.
Physical features: Individuals with LADD syndrome may exhibit distinctive facial characteristics such as a prominent forehead, widely spaced eyes, a broad nasal bridge, and a small chin. They may also have dental abnormalities, including missing or misshapen teeth.
Developmental challenges: Children with LADD syndrome often experience developmental delays, particularly in speech and motor skills. They may have intellectual disabilities and learning difficulties.
Skeletal abnormalities: LADD syndrome can affect bone development, leading to short stature, abnormal curvature of the spine (scoliosis), and joint problems.
Other features: Additional symptoms may include abnormalities in the fingers and toes, vision and hearing impairments, heart defects, and gastrointestinal issues.
LADD syndrome is caused by mutations in the FAM111A gene. It is typically diagnosed through clinical evaluation, genetic testing, and imaging studies. Treatment focuses on managing the specific symptoms and may involve a multidisciplinary approach with specialists from various medical fields.
