Seckel syndrome (SCKL)

Seckel Syndrome OMIM #210600
* This composite image of Seckel syndrome was created to help geneticists get a better analysis

What is Seckel syndrome?

This rare disease is an inherited syndrome, named for the pediatrician, Dr. Seckel, who published the first clinical cases of the syndrome in 1960.

The main characteristics of the syndrome include intrauterine growth retardation (before birth), dwarfism, intellectual disability, microcephaly (a very small head), and a ‘bird-like’ facial appearance.

Syndrome Synonyms:
Bird-headed dwarfism; Nanocephalic dwarfism; Seckel-Type Dwarfism

What gene change causes Seckel syndrome?

The syndrome is caused due to alterations in the following genes TRAIP, CEP63, ATR, NSMCE2, DNA2, CENPJ, NIN, CEP152, and RBBP8. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Seckel syndrome?

  • Symptoms of the syndrome may appear prenatally, with restricted growth of the fetus in the uterus leading to a low birth weight. This growth delay continues into childhood and results in dwarfism, and a very small stature.
  • Other physical features of the syndrome include a very small head, a receding forehead, large ears, low-set ears, a protruding nose, and a small chin.
  • The bones in the arms and legs may not develop properly, and elbow and hip dislocations are common.
  • Developmental delay and severe mental disability are common with the syndrome. 50% of individuals with the syndrome will have very severe mental disabilities including a very low IQ. Individuals may also have a hyperactive personality.

How is Seckel syndrome diagnosed?

To find out if someone has a diagnosis of Seckel syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more