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Seckel Syndrome - Causes, Symptoms, Diagnosis and Treatment

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Seckel syndrome is an inherited condition that results in dwarfism. Read this article to know about seckel syndrome in detail.

Medically reviewed by

Dr. Patel Bhavesh Ashokkumar

Published At March 19, 2022
Reviewed AtAugust 10, 2022

What Is Seckel Syndrome?

Seckel syndrome is a rare genetic syndrome that results in restricted growth, both prenatal and postnatal. The growth restriction in the intrauterine period results in poor birth weight, and the limited growth after birth results in dwarfism or short height.

The studies about the relationship between clinical and genetic heterogeneity are not clearly proved. Recent studies have shown chromosomal instability in the fragile sites where replication stress was described and there is interlinking between chromosomal instability and phenotypic findings.

What Are the Other Names of Seckel Syndrome?

  • Seckel type dwarfism.

  • Nanocephalic dwarfism.

  • Seckel type primordial dwarfism.

  • SCKL.

  • Microcephalic primordial dwarfism.

What Are the Subdivisions of Seckel Syndrome?

Depending on the gene affected, Seckel syndrome is subdivided into ten types, namely,

  • Seckel syndrome 1 or SCKL1.

  • Seckel syndrome 2 or SCKL2.

  • Seckel syndrome 3 or SCKL3.

  • Seckel syndrome 4 or SCKL4.

  • Seckel syndrome 5 or SCKL5.

  • Seckel syndrome 6 or SCKL6.

  • Seckel syndrome 7 or SCKL7.

  • Seckel syndrome 8 or SCKL8.

  • Seckel syndrome 9 or SCKL9.

  • Seckel syndrome 10 or SCKL10.

What Is the Cause of Seckel Syndrome?

Seckel syndrome is a rare form of a genetic disorder. It exhibits an autosomal recessive pattern. It is caused due to mutations, which are changes occurring in the genes.

In the case of recessive disorders, parents who have undergone consanguineous marriages share a higher chance of giving birth to a child who can either be a carrier or an affected individual of the disease than parents who are unrelated.

When two non-working genes are inherited from each parent, this recessive genetic disorder occurs. If there is an inheritance of one working gene and one non-working gene, then the person becomes a carrier. Carriers are usually asymptomatic.

There is a 25 % chance that a child can be affected by Seckel syndrome. When two parents are carriers, there is a 50 % chance that the child can become a carrier. As well as, the child can turn up into a healthy individual by receiving only healthy genes from the carrier parents, and the chances for that to occur are 25 %.

Seckel syndrome is subdivided into ten types depending on the gene affected. The following are the subdivisions and the genes involved in each subdivision:

Subdivisions of Seckel Syndrome

What Is the Incidence of Seckel Syndrome?

Ever since it was first diagnosed in 1960, there have been around 100 cases of Seckel syndrome, hence it is a rare genetic disorder.

How Is Seckel Syndrome Manifested?

Before birth, it causes reduced fetal growth resulting in low birth weight. After birth, manifestations of Seckel syndrome include reduced growth and delayed bone maturation. The following are the symptoms seen in Seckel syndrome:

  • Achondroplasia or short-limbed dwarfism.

  • Low birth weight.

  • Short stature.

  • Nose shows a beak-like protrusion.

  • Face appears narrow.

  • Small-sized head or microcephaly.

  • Micrognathia or small jaw.

  • Ear malformation.

  • Retardation of mental ability. In some cases, the intelligent quotient (IQ) can be significantly less than 50.

  • Abnormalities of the tooth.

  • Blood disorders like pancytopenia, anemia, and acute myeloid leukemia.

  • High-arched palate.

  • Large and abnormal eyes.

  • Large clitoris.

  • Cryptorchidism or undescended testis.

  • Presence of simian crease, which is a solitary and deep line present on the palm that forms during the development of an embryo.

What Are the Diagnostic Criteria for Seckel Syndrome?

  • Prenatal onset of proportionate dwarfism.

  • Presence of autosomal recessive inheritance.

  • Retardation of mental growth.

  • Severe microcephaly.

  • Bird-headed appearance.

How Is Seckel Syndrome Diagnosed?

1. Family History:

Genetic counselors get to know the family history of the disease to determine the chances of acquiring this syndrome.

2. Brain Imaging:

Microcephaly is an essential characteristic of Seckel syndrome, which can be identified by imaging tests. Two standard deviations of the mean value of age, gender, and ethnicity is determined for the child. If the occipitofrontal head circumference present at birth is less than this value, the diagnosis of Seckel syndrome is confirmed.

3. Molecular Genetic Testing:

Gene mutations can also be identified by performing molecular genetic tests, thereby it helps in the diagnosis of Seckel syndrome. In a couple with a child with Seckel syndrome, antenatal molecular diagnosis can help identify the condition in the fetus.

4. Fetal Ultrasound:

Fetal growth retardation can be noted in the fetal ultrasound taken in the second trimester of pregnancy. But this can help detect only high-risk cases, and this method cannot diagnose low-risk patients.

How Can We Treat Seckel Syndrome?

Medical treatment is done for vascular disorders like pancytopenia, anemia, and acute myeloid leukemia. In terms of children who are mentally challenged, counseling and social support are needed for these children as well as their families.

Conclusion:

Seckel syndrome is an inherited condition that poses physical and mental disabilities to the affected child. This leads to mental trauma to the family of that child. When you have a family history of the disease, it is essential to consult your doctor during pregnancy to detect antenatal deformities.

Frequently Asked Questions

1.

What Is the Survival Rate of Seckel Syndrome?

Intellectual and developmental abnormalities are prevalent. Although with a  wide range of physical and mental problems, many people with Seckel syndrome successfully lived well for over 50 years.

2.

What Is the Diagnosis of Seckel Syndrome?

The Seckel syndrome can be detected well before birth (prenatally). Ultrasound may be used to produce an image of the growing fetus. Seckel syndrome may be suspected if a fetus has a tiny head (microcephaly), delayed development, or characteristics of the head and face (craniofacial) related to Seckel syndrome.

3.

Is It Possible for a Child to Grow Out of Dwarfism?

People with dwarfism caused by a lack of growth hormone may benefit from treatment with injections of a synthetic form of the hormone. In most cases, children take daily injections for many years till they achieve their maximal adult height, which is frequently within their family's average adult range. 

4.

What Exactly Is Seckel Syndrome Five?

Seckel syndrome is a rare hereditary disorder characterized by sluggish prenatal development (intrauterine growth restriction) and low birth weight. Slow development persists after delivery (postnatal), resulting in small stature (dwarfism). In addition, Seckel syndrome is distinguished by a small head (microcephaly) and a learning disability.

5.

What Syndrome Is Characterized by a Small Head?

Microcephaly is a birth condition in which the head of the baby is smaller than normal compared to other newborns of the same gender and age.

6.

What Exactly Is Seckel Syndrome Four?

Seckel syndrome is a rare autosomal recessive condition that causes severe prenatal and postnatal retardation of growth, severe microcephaly (small head) with mental impairment, and unique dysmorphic characteristics.

7.

Is It Possible to Cure Genetic Defects?

Many genetic diseases are caused by alterations in the genes found in every body cell. As a result, these conditions frequently impact many physiological systems, and the majority are incurable.

8.

Can a Defective Gene Be Fixed?

Gene therapy is used to fix faulty genes to cure an illness or assist the body in fighting against diseases more effectively. Several approaches are being investigated by researchers, such as replacing faulty genes. However, some cells get ill because some genes function wrongly or no longer function.

9.

How Can One Tell if a Baby Is Born with Dwarfism?

Disproportionate dwarfism is frequently visible at birth or early in childhood. However, if the kid is not developing normally, proportionate dwarfism may not be detected until later in childhood or adolescence.

10.

What Are the Facial Characteristics of Dwarfism?

An excessively big head with a large forehead and a nasal bridge that is flattened and the development of the bowed legs progressively.

11.

Which Syndrome Is Related To Dwarfism?

Achondroplasia is a bone development disease that results in dwarfism. Achondroplasia patients are short, with a normal trunk and limbs are short. It is the most prevalent kind of disproportionate dwarfism.

12.

How To Diagnose Dwarfism in a Child?

- The measuring of height, weight, and head circumference of the head is a routine part of routine checkups for a baby.
- The physical appearance of the child.
- Routine X-rays.
- Genetic testing.
- A positive family history.
- Hormone analysis.

13.

What Are the Three Kinds of Dwarfism?

The three most frequent kinds of skeletal dysplasias are: 
- Achondroplasia.
- Spondyloepiphyseal dysplasia congenita. 
- Dystrophic dysplasia.

14.

What Are the Causes of Dwarf Babies?

A lack of growth hormone is a fairly main reason for proportional dwarfism. It happens when the pituitary gland fails to generate enough growth hormone for proper childhood growth. Among the warning signs are that height falls below the third percentile on typical pediatric growth charts.
Dr. Patel Bhavesh Ashokkumar
Dr. Patel Bhavesh Ashokkumar

Pediatrics

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