Anak dengan kelainan ini akan mempunyai ukuran tubuh yang lebih kecil dari manusia normal pada umumnya. Ciri-ciri yang menyertai yaitu, "Seluruh tulang tubuhnya sangat pendek, kepala kecil, dan hidungnya seperti burung," ungkap Eri.
Biasanya dari lahir pun bayi ini sudah menunjukkan ciri yang sangat khas, "Berat badannya hanya sekitar 1-2 kg dan sampai dewasa tingginya tak lebih dari 104 cm," tambahnya. Anak dengan kelaian ini rata-rata mempunyai IQ tidak lebih dari 50.
Anak penderita seckel syndrome mempunyai harapan hidup yang tinggi, "Bahkan pernah dilaporkan ada yang sampai berusia 75 tahun," ujarnya. Mutasi spontan juga dimungkinkan sebagai penyebab kelainan ini.
Seckel syndrome is an inherited form of primordial dwarfism, meaning that the infant starts out very small in the womb (intrauterine growth retardation) and does not grow normally after birth. Seckel syndrome is inherited in an autosomal recessive pattern and has been linked to genetic mutations on chromosomes 3, 18, and 14. How often Seckel syndrome occurs is not exactly known, but more than 100 cases have been reported in the medical literature. Many children diagnosed with Seckel syndrome are born to parents who are consanguineous, or closely related.
Symptoms
Seckel syndrome has distinct physical symptoms, including:
- very small at birth (average birth weight is 1,540 g or about 3.3 pounds)
- extremely small proportionate stature (dwarfism)
- very small head (microcephaly)
- "beak-like" protrusion of the nose
- narrow face
- malformed ears
- unusually small jaw (micrognathia)
- mental retardation, often severe (IQ less than 50)
Diagnosis
Diagnosis of Seckel syndrome is based on recognizing the physical symptoms. Sometimes x-rays may need to be done to distinguish Seckel syndrome from other similar conditions. There is no lab test or genetic test specific for diagnosing the syndrome.Treatment
Treatment of Seckel syndrome focuses on any medical problems that may be present, especially blood disorders. Families will need help managing the problems related to severe mental retardation.Sources:
Faivre, Laurence, & Valerie Cormier-Daire. "Seckel syndrome." Orphanet encyclopedia. Apr 2005. Orphanet. 6 Aug 2008
"Seckel Syndrome." Index of Rare Diseases. National Organization for Rare Disorders. 6 Aug 2008
Faivre, L., M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich, & V. Cormier-Daire. "Clinical and genetic heterogeneity of Seckel syndrome." American Journal of Medical Genetics 112(2002): 379-383.
