Rare Diseases Genetic Disorders Seckel Syndrome and Primordial Dwarfism By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Mary Kugler, RN Medically reviewed by Medically reviewed by Brian Levine, MD on November 30, 2019 linkedin Brian Levine, MD, MS, FACOG, is board-certified in obstetrics and gynecology, as well as in reproductive endocrinology and infertility. Learn about our Medical Review Board Brian Levine, MD Updated on January 26, 2020 Print Seckel syndrome is an inherited form of primordial dwarfism, meaning that an infant starts out very small and fails to grow normally after birth. While persons with Seckel syndrome will typically be proportionate in scale, they will have distinctively small head size. Mental retardation is also common. Despite an array of physical and mental challenges facing a person with Seckel syndrome, many have been known to live well in excess of 50 years. Hero Images / Getty Images Causes Seckel syndrome is an inherited disorder linked to genetic mutations on one of three different chromosomes. It is considered extremely rare with little more than 100 cases reported since 1960. Many children diagnosed with Seckel syndrome were born to parents who are closely related (consanguineous), such as with first cousins or siblings. Seckel syndrome is a recessive genetic disorder, meaning that it occurs only when a child inherits the same abnormal gene from each parent. If the child receives one normal gene and one abnormal gene, the child will be a carrier of the syndrome but will not usually show symptoms. If both parents have the same chromosomal mutation for Seckel syndrome, their risk of having a baby with Seckel syndrome is 25 percent, while the risk of having a carrier is 50 percent. Characteristics Seckel syndrome is characterized by abnormally slow fetal development and low birth weight. Following birth, the child will experience slow growth and bone maturation resulting in short yet proportional stature (as opposed to short-limbed dwarfism, or achondroplasia). Persons with Seckel syndrome have distinct physical and developmental characteristics, including: Very small size and weight at birth (average 3.3 pounds)Extremely small, proportionate statureAbnormally small head size (microcephaly)A beak-like protrusion of the noseNarrow faceMalformed earsUnusually small jaw (micrognathia)Mental retardation, often severe with an IQ less of than 50 Other symptoms may include abnormally large eyes, a high arched palate, tooth malformation, and other bone deformities. Blood disorders such as anemia (low red blood cells), pancytopenia (not enough blood cells), or acute myeloid leukemia (a type of blood cancer) are also commonly seen. In some cases, the testes in men will fail to descend into the scrotum, while women may have an abnormally enlarged clitoris. In addition, people with Seckel syndrome may have excessive body hair and a single, deep crease across the palms of their hands (known as a simian crease). Diagnosis Diagnosis of Seckel syndrome is based almost exclusively on physical symptoms. X-rays and other imagining tools (MRI, CT scan) may be needed to distinguish it from other similar conditions. There is currently no lab or genetic test specific to Seckel syndrome. In some cases, a definitive diagnosis cannot be made until the child gets older and the characteristic symptoms appear. Treatment and Management Treatment of Seckel syndrome is focused on any medical problem that may arise, especially blood disorders and structural deformities. Mentally challenged individuals and their families will need to be given appropriate social support and counseling services. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Al-Dosari, M.; Shaheen, R.; Colak, D. et al. "Novel CENPJ mutation causes Seckel syndrome." J Med Genet. 2010; 47:411-4. Hennekam, R.; Allanson, J.; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck. Oxford, England: Oxford University Press:440-80.