Seckel syndrome

Symptoms and signs

Symptoms include:

• intellectual disability (more than half of the patients have an IQ below 50)
• microcephaly
• sometimes pancytopenia (low blood counts)
• cryptorchidism in males
• low birth weight
• dislocations of pelvis and elbow
• unusually large eyes
• blindness or visual impairment
• large, low-set ears
• small chin due to receded lower jaw

Genetics

It is believed to be caused by defects of genes on chromosome 3 and 18. One form of Seckel syndrome can be caused by mutation in the gene encoding the ataxia telangiectasia and Rad3-related protein () which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism.

Types include:

Diagnosis

There are 4 criteria for diagnosis:

1. Congenital Dwarfism and postnatal growth retardation
2. Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion
3. Mental handicap
4. Agenesis of the corpus callosum, cerebral cysts

Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis.

Genetic testing can confirm diagnosis.

Treatment

There is no cure for Seckel syndrome. Symptomatic treatment is available.

History

The syndrome was named after German–American physician Helmut Paul George Seckel (1900–1960). The synonym Harper's syndrome was named after pediatrician Rita G. Harper.

References

References

1. (2007). "Bird-headed dwarf of Seckel". J Indian Soc Pedod Prev Dent.
2. (February 2008). "The encyclopedia of genetic disorders and birth defects". Infobase Publishing.
3. (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature". Urology.
4. (August 2009). "A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging". Nat. Genet..
5. "Seckel Syndrome - Symptoms, Causes, Treatment {{!}} NORD".
6. "Entry - #210600 - SECKEL SYNDROME 1; SCKL1 - OMIM".
7. (2019). ["Seckel Syndrome"](https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220544462#:~:text=Four%20criteria%20are%20diagnostic:%20(1,of%20the%20corpus%20callosum,%20dysgenetic). McGraw-Hill Education.
8. (2019). ["Seckel Syndrome"](https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220544462#:~:text=Four%20criteria%20are%20diagnostic:%20(1,of%20the%20corpus%20callosum,%20dysgenetic). McGraw-Hill Education.
9. "Seckel Syndrome - Symptoms, Causes, Treatment {{!}} NORD".
10. (2023-01-04). "Case of Seckel Syndrome in a 9-month-old Girl". Open Access Macedonian Journal of Medical Sciences.
11. Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
12. "Seckel's syndrome".
13. (May 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies". J. Pediatr..