Sickel syndrome (tiny people)

Sickel syndrome (tiny people)'s disease overview

Sickel syndrome (other name: Tiny people syndrome) is a form of genetic disorders characterized by slow growth and development; Very small head (small head); intellectual disabilities; The face has characteristics such as big eyes, nose like bird beaks, narrow face and lower jaw.

There are a few patients who also have vascular abnormalities. Tiny human syndrome inherited by chromosomes is often diving, this condition can be divided into 8 different subgroups, depending on the specific genetic change (mutation. ). Treatment methods are only supportive.

Tiny patients can cause complications such as slow growth, small head, serious disability intelligence. This disease is extremely rare, only about 100 known cases.

Causes of Sickel syndrome (tiny people)'s disease

What are the causes of the patient?

This is a genetic disorder related to the gene mutation of one of three different chromosomes. There are many children diagnosed with Seckel syndrome that are born with parents who are close to each other as their cousins or siblings.

Tiny human syndrome is also a chromosome genetic disorder with diving properties, meaning that this syndrome only occurs when children inherit the same abnormal genes from both parents. If the child receives a normal gene and an abnormal gene, the child will be a person carrying a disease gene but often there are no symptoms that manifest outside.

In the event that both parents have similar chromosomes for Seckel syndrome, the risk of childbirth is 25% and the risk of giving birth to the gene of this syndrome is 50%.

Symptoms of Sickel syndrome (tiny people)'s disease

Sickel syndrome often shows the following signs and symptoms:

Expression is characterized by prenatal retardation (growth retardation in the uterus), resulting in low birth weight. Development is delayed after birth leading to low stature (dwarf).

In addition, it is also accompanied by physical cheese related to SOCKEL syndrome including: abnormal small head (small head); different levels of mental retardation; There may be unusual facial characteristics such as beaked nose, unusually large eyes, narrow face, deformity or abnormal small jaws (small -size jaw).

There are some children affected by this disease may have permanent bend (curved fingers), hips with deformities (dysplasia), forearm dislocations (dislocated (dislocated. rotary bone) or other physical abnormal characteristics.

Transmission route of Sickel syndrome (tiny people)'s diseaseSickel syndrome (tiny people)

Tiny people syndrome of genetic factors, not transmitted from person to person through contacts, respiratory or blood sugar ...

People at risk for Sickel syndrome (tiny people)'s disease

Tiny patients often appear in babies, especially in cases of a history of a history of people who have become sick, or parents contain a disease gene.

Prevention of Sickel syndrome (tiny people)'s disease

It can be affirmed that tiny patients are a genetic disease due to inheritance of chromosomes that often have diving properties. Among families with genetic history of Seckel syndrome should avoid marriages between family members to minimize the risk of this syndrome.

- Those who carry this syndrome should seek genetic advice to understand the genetic risk of genes that affect the next generation.

Diagnostic measures for Sickel syndrome (tiny people)'s disease

To diagnose the tiny human syndrome, doctors rely on physical symptoms. To be able to distinguish this syndrome from other similar conditions, X-rays and other diagnostic diagnostics are needed (MRI, CT scan).

Currently, medicine has not yet been tested or genetic testing for SOCKEL syndrome. There are many cases, can only identify the disease when the child has grown and started to show the external disease.

Sickel syndrome (tiny people)'s disease treatments

To treat tiny human syndrome, the following methods can be applied:

First of all, Seckel syndrome is known as a disorder from structural deformation to blood disorders. For hematological problems such as leukemia and anemia can be treated with drugs and appropriate therapies.

For individuals who have mental difficulties with their families, they need to receive appropriate social support services and advice.

Using the genetic analysis method can be performed on the fetus if the first child is born with this syndrome and is determined to have a genetic mutation. Genetic advice activities for families with this syndrome are essential to understand the risk of having children with Seckel syndrome.

Disclaimer

Every effort has been made to ensure that the information provided by Drugslib.com is accurate, up-to-date, and complete, but no guarantee is made to that effect. Drug information contained herein may be time sensitive. Drugslib.com information has been compiled for use by healthcare practitioners and consumers in the United States and therefore Drugslib.com does not warrant that uses outside of the United States are appropriate, unless specifically indicated otherwise. Drugslib.com's drug information does not endorse drugs, diagnose patients or recommend therapy. Drugslib.com's drug information is an informational resource designed to assist licensed healthcare practitioners in caring for their patients and/or to serve consumers viewing this service as a supplement to, and not a substitute for, the expertise, skill, knowledge and judgment of healthcare practitioners.

The absence of a warning for a given drug or drug combination in no way should be construed to indicate that the drug or drug combination is safe, effective or appropriate for any given patient. Drugslib.com does not assume any responsibility for any aspect of healthcare administered with the aid of information Drugslib.com provides. The information contained herein is not intended to cover all possible uses, directions, precautions, warnings, drug interactions, allergic reactions, or adverse effects. If you have questions about the drugs you are taking, check with your doctor, nurse or pharmacist.