Fine-Lubinsky syndrome

Fine-Lubinsky syndrome is a rare condition that affects many parts of the body. It is characterized by several distinct features including delays in psychomotor development and differences in physical appearance. People with this condition often have a flat face with brachycephaly (a shortened skull), a small nose, and a small mouth (microstomia). Other features mentioned include cleft palate, cataracts (clouding of the eye's lens), hearing loss, underdeveloped scrotum, and various digital anomalies (irregularities in the fingers and toes). This syndrome is known by several names, emphasizing its main clinical findings. It has been described with names that reference brachycephaly, hearing loss, cataracts, and intellectual disability or mental retardation. Although the clinical presentation is quite specific, not all aspects of the syndrome may be present in every individual. The information provided here is based on trusted sources that describe the syndrome’s key physical and developmental characteristics.

People with Fine-Lubinsky syndrome may show many symptoms. Some of the common features include psychomotor delay, which means that there may be a slower development of movement or coordination skills. They may have a flat face with brachycephaly (short skull shape), a small nose, and a small mouth. There can also be a cleft palate, cataracts which affect vision, hearing loss, and atypical features in the fingers and toes. Additionally, underdevelopment of the scrotum is noted in affected males.

Information about causes is currently limited for this condition.

Information about treatment options and management is currently limited for this condition.

Information about prognosis, including the outlook and quality of life considerations, is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.