Definition

What is Seckel syndrome?

Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly) with intellectual disability, and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. About less than 25% of the patients also have blood abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation). Treatment is supportive.

How common is Seckel syndrome?

Seckel syndrome is extremely rare. It’s an inherited disorder with only around 100 known cases. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Seckel syndrome?

Seckel syndrome is characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight. Growth delays continue after birth (postnatal), resulting in short stature (dwarfism). Other symptoms and physical features associated with Seckel syndrome include an abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual characteristic facial features including “beak-like” protrusion of the nose. Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia). In addition, some affected infants may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, dislocation of a bone in the forearm (radial dislocation), and/or other physical abnormalities.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Seckel syndrome?

Seckel syndrome is 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.

Risk factors

What increases my risk for Seckel syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Seckel syndrome diagnosed?

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.

How is Seckel syndrome treated?

The disorders observed in Seckel syndrome range from structural deformities to blood disorders. Hematological problems such as leukemia and anemia can be treated with appropriate medication and therapy.

Mentally challenged individuals along with their families need to be given appropriate social support and counseling services.

Genetic analyses can be performed on the fetus if the first child is born with the syndrome and if the contributing mutation is identified. Genetic counseling of families with a family history is essential to understand the risk of having a child with Seckel syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Seckel syndrome?

Seckel syndrome is a genetic condition that is inherited in an autosomal recessive manner. Families with a genetic history of Seckel syndrome should avoid marriages between family members to reduce the chance of this syndrome. Carriers of this syndrome should seek genetic counseling to understand the risk of transmitting the affected gene to the next generation.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: December 15, 2017 | Last Modified: December 15, 2017

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.