Synonyms
Cleidocranial Dysplasia w/ Micrognathia, Absent Thumbs, & Distal Aphalangia

Disorder Subdivisions
None

General Discussion
Yunis-Varon Syndrome is an extremely rare inherited multisystem disorder with defects affecting the skeletal; ectodermal tissue (i.e., nails, hair, and teeth); and cardiorespiratory (i.e., heart and lungs) systems. It is characterized by growth retardation prior to and after birth; defective growth of the bones of the skull along with complete or partial absence of the shoulder blades (cleidocranial dysplasia); characteristic facial features; and/or abnormalities of the fingers and/or toes. Characteristic facial features may include an extremely small jaw (micrognathia), thin lips, sparse or absent eyebrows and/or eyelashes, and/or an unusually short vertical groove (philtrum) in the upper lip. Abnormalities of the fingers and toes may include absence (aplasia) or underdevelopment (hypoplasia) of the thumbs and/or the bones at the ends of the fingers and the great toes (distal phalanges). In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects (e.g., abnormal enlargement of the heart muscle [hypertrophic cardiomyopathy]). In some cases, feeding problems, respiratory difficulties, and/or heart defects may result in life-threatening complications during infancy. Yunis-Varon Syndrome is thought to be inherited as an autosomal recessive genetic trait.