What is Seckel Syndrome?
- A form of dwarfism
- Prevalence unknown
- Occurs as a result of mutations on the chromosomes 3, 18 and 14
- Can be split into 8 subtypes
Diagnosis of Seckel Syndrome
- After birth by:
- Historical records
- Observation of common physical characteristics
- Laboratory test results
- X-ray
What are common characteristics of Seckel Syndrome?
- Short stature
- Small head size (Microcephaly)
- Abnormality of the nose - beak like appearance
- Identifiable facial features e.g. malformed ears, small jaw (mircrognathia) and large eyes
- High arched roof (palate) of the mouth
- Potential bone abnormalities
- Potential blood disorders
*Please be aware, not all of the characteristics may be present*
Other information about Seckel Syndrome
- Intelligence is considered lower than average
- Can affect boys and girls equally
Genetics of Seckel Syndrome
- Autosomal recessive pattern
Additional reading about Seckel Syndrome
- National Organisation for Rare Disorders (NORD) - Seckel Syndrome
- OMIM
- Kids Health
- Understanding Dwarfism
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