Seckel syndrome 7

Seckel syndrome 7, also known as NIN Seckel syndrome or the Dauber type, is a rare genetic condition that affects growth and development starting from embryogenesis. People with this condition often experience severe growth delays before and after birth, as well as a smaller than typical head size (microcephaly). They may also show distinctive facial features such as closely set eyes (hypotelorism), small ears, and a prominent nose. In addition to growth challenges, this condition is associated with significant developmental delays and intellectual disability. Other physical characteristics may include a very short adult stature, various skeletal anomalies like clinodactyly (curved digits), mild lumbar scoliosis, hip dysplasia, and sometimes seizures. Females with this condition might also experience an absence of normal pubertal changes such as thelarche and menarche.

Common symptoms include severe microcephaly, significant developmental delays, intellectual disability, and short adult stature. Facial differences such as hypotelorism, small ears, and a prominent nose are noted, along with skeletal differences like clinodactyly, scoliosis, and hip dysplasia. Seizures have also been reported in some cases.

This condition is caused by mutations in the NIN gene. It is a genetic disorder that affects growth and development during early life. Since it is inherited, the genetic change plays a central role in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.