Seckel syndrome (SS) is a hereditary autosomal recessive disease. It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly. This disorder affects both males and females equally.
Seckel syndrome has various forms, hence it shows a heterogeneous presentation [1]. Inherited in an autosomal recessive pattern, SS occurs through a mutation of one of the several genes, such as the retinoblastoma binding protein 8 (RBBP8) and centromere protein J (CENPJ) genes. It is recognized as part of a wider spectrum of autosomally recessive microcephalies [2]. SS has no preponderance for either sex and is not restricted to, or more common in, any particular geographical areas. Its incidence rate is estimated to be less than one in 1 million births.
The main features involve intrauterine growth restriction, microcephaly, continued growth impairment after birth leading to dwarfism, and skeletal abnormalities. A myriad of other characteristics has been described.
In addition to a reduced head circumference, patients have typical dysmorphic facial features which include narrow jaws and have been described to have a 'bird head' appearance. Cleft palate and high arched palate have been reported [3] [4]. Dental abnormalities such as poor enamel production, smaller and fewer teeth, and dental crowding, are common [5] [6]. The range of skeletal abnormalities, in addition to short stature, is broad and may include clinodactyly, bone dislocations (affecting the head of the femur), anomalies of limb, and spinal deformities such as kyphosis.
Mental retardation is usually recorded and may be mild to severe. In infancy and early childhood, affected individuals are slow in attaining developmental milestones.
Further systemic pathology has been associated with the syndrome, such as gastrointestinal, cardiovascular and ocular symptoms. There are also several central nervous system manifestations, for example, malformation of certain brain structures such as the cerebral cortex. A significant proportion of patients, as many as 15%, suffer from anemia, pancytopenia, leukemia or other forms of hematopathology [7]. They are prone to kidney and upper respiratory tract infections.
There are several tools used in the workup of SS, including clinical assessment.
A diagnosis may be made prenatally, via ultrasound in the second trimester, by identifying intrauterine growth restriction (IUGR). A series of ultrasound scans can be conducted, making the technique more effective in detecting abnormalities in the bone structure and facial features [8].
On presentation during childhood, the examination is carried out by noting anthropometric measurements, including head circumference, height, and weight. Evaluation of the morphology of the pelvic bones and femur is also useful.
Other methods include: