Seckel Syndrome - Symptoms, Causes, Treatment | NORD
2021年11月17日 · Seckel syndrome is rare genetic condition with slow growth before birth (intrauterine growth restriction) resulting in low birth weight. Slow growth continues after birth (postnatal), causing short height (dwarfism). Some features of Seckel syndrome are a small head (microcephaly) and intellectual disability.
Entry - #210600 - SECKEL SYNDROME 1; SCKL1 - OMIM
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel Syndrome.
Seckel syndrome - Wikipedia
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2]
Seckel syndrome | About the Disease | GARD - Genetic and Rare …
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. Summary.
Seckel Syndrome - Causes, Symptoms, Diagnosis and Treatment
2022年3月19日 · Seckel syndrome is a rare genetic syndrome that results in restricted growth, both prenatally and postnatally. Growth restriction in the intrauterine period (gestation or baby growth period) results in poor birth weight, and limited growth after birth results in …
Seckel Syndrome: A Comprehensive Guide to This Rare Dwarfism …
Seckel Syndrome is a rare genetic disorder that falls under the umbrella of primordial dwarfism. This intriguing condition, first identified in the mid-20th
Seckel syndrome - Orphanet
Seckel syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a bird-headed like appearance and mental retardation. Hematological abnormalities with chromosome breakage have only been found in 15 to 25% of patients.
Seckel Syndrome - contemporaryobgyn.net
2011年7月19日 · Seckel Syndrome is a rare (<1:10,000) constellation of malformations, presumably inherited as an autosomal-recessive trait. The primary characteristic features of Seckel Syndrome (SS) include; severe intrauterine growth restriction, microcephaly, orofacial dysmorphology with characteristic "bird-headed" appearance, and mental retardation.
Seckel Syndrome - an overview | ScienceDirect Topics
Seckel syndrome (SCKL1, OMIM 210600) is a rare AR disorder characterized by postnatal proportional short stature, microcephaly with mental retardation, and a characteristic “bird-headed” facial appearance. This condition can be caused by mutations in the ATR gene (3q22.1–q24) that encodes the ataxia-telangiectasia and RAD3-related protein [46].
FDNA™Seckel Syndrome: Symptoms, Causes and Diagnosis
What are the main symptoms of Seckel syndrome? Symptoms of the syndrome may appear prenatally, with restricted growth of the fetus in the uterus leading to a low birth weight. This growth delay continues into childhood and results in dwarfism, and a very small stature.
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