Hennekam-Beemer syndrome

Hennekam-Beemer syndrome is a rare condition described in just two reported cases in female individuals. It is characterized by a combination of skin findings, short stature, a small head (microcephaly), hearing loss (specifically conductive hearing loss), and distinctive facial features. In one case, the patient had normal mental development while in the other, there were significant delays in psychomotor development. This syndrome is thought to be inherited in an autosomal recessive pattern. The condition has also been called by several other names, highlighting its varied features including mastocytosis (a skin condition showing diffuse pigmentation), short stature, and hearing loss, among others.

People with Hennekam-Beemer syndrome may show skin changes that appear as diffuse pigmentation, short stature, a small head size (microcephaly), conductive hearing loss, and other distinct facial features. There can also be differences in developmental progress, as one reported case experienced severe delays while another had normal mental development.

Hennekam-Beemer syndrome is thought to be caused by genetic changes that follow an autosomal recessive inheritance pattern. This means that the condition may occur when a child receives one copy of the altered gene from each parent. Specific genes have not yet been identified for this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition. The outcomes for people with Hennekam-Beemer syndrome may vary, especially given the differences in mental development observed in the limited cases reported.

Information about current research is currently limited for this condition. Due to the rarity of this syndrome, studies and clinical trials specific to Hennekam-Beemer syndrome are very limited.