Putting a Spotlight On
Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disability. Learn more below.
Seckel Syndrome
What is it?
- Seckel Syndrome is a rare genetic condition of dwarfism that involves intrauterine growth retardation (smaller size at birth), microcephaly (abnormally small head), intellectual disability, short build, large eyes, narrow jaw, deformed hips, bent fifth finger, and birdlike features (receding forehead and chin with beaked nose). Seckel Syndrome is observed equally in males and females. This condition is also known as bird-headed dwarfism, nanocephaly, microcephalic primordial dwarfism, Seckel type primordial dwarfism, SCKL.
What are the Signs and Symptoms?
- Some clinical features of Seckel Syndrome include:
- The circumference of the head is small for the age of the infant
- Intellectual disability
- Low birth weight
- Short Stature
- Defects in dentition- crowding of teeth, defects in enamel development (hypoplasia)
- Large eyes, sloped eyelids, eyes are crossed
- Bird-like features (sloping forehead, beaked nose, unusually small jaw)
- Ears with no ear lobes
- Hip, forearm, elbow bone defects and dislocation
- Bent fifth finger
- Club foot
- Excess in body hair
What is it caused by?
- Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that the chance of both the copies of the gene to get affected is rare. When one of the copies is affected, the individuals is a carrier. Seckel syndrome is also characterized by microcephaly. When the occipitofrontal head circumference at birth is less than 2 standard deviation of the mean value based on the age, ethnicity, and gender, the child is diagnosed with Seckel syndrome.
What are the complications?
- The disorders observed in Seckel Syndrome range from structural deformities to blood disorders. There is no confirmed evidence of life expectancy but individuals with Seckel syndrome are known to have a life expectancy of more than 50 years.
Reference: https://www.medindia.net/patients/patientinfo/seckel-syndrome.htm
