Seckel syndrome


Also found in: Acronyms, Wikipedia.

Seck·el syn·drome

(sek'ĕl), [MIM*210600]
an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible, and moderate mental retardation.
Synonym(s): Seckel dwarfism

Seck·el syn·drome

(sek'ĕl), [MIM*210600]
an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible, and moderate mental retardation.
Synonym(s): Seckel dwarfism

bird-headed dwarfism

A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid slant of palpebral fissures, premature balding, short trunk, variable musculoskeletal changes (e.g., kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary defects (e.g., cryptorchidism).
 
Molecular pathology
Bird-headed dwarfism is divided into four types based on the gene (or locus if the gene has yet to be identified) found defective. The most common is type 1 (OMIM 210600), in which the ataxia-telangiectasia (ATR) and Rad3-related gene, which maps to chromosome 3q22.1-q24, is defective. The protein encoded by ATR plays a central role in DNA repair.

Seckel syndrome

(sĕk′ĕl)
[H. P. G. Seckel, German Pediatrician, 1900–1960]
A rare autosomal recessive developmental disorder characterized by intrauterine growth retardation, dwarfism, facial, skeletal and dental anomalies, and developmental and neurological deficits.

Seckel,

Helmut Paul George, German physician, 1900-1960.
Seckel dwarfism - Synonym(s): Seckel syndrome
Seckel syndrome - an autosomal recessive disorder. Synonym(s): Seckel dwarfism
References in periodicals archive ?
Stiff et al., "Identification of the First ATRIP- Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome," PLoS Genetics, vol.
Gressens, Primary autosomal recessive microcephalies and Seckel syndrome spectrum disorders, 2013.
"He recognised the bird-like shape of Stephanie's head, which is particular to Seckel Syndrome.
"Her behaviour can be difficult too, which I was told is another classic sign of Seckel Syndrome.
Chromosomal instability at common fragile sites in Seckel syndrome. Am J Hum Genet 2004; 75:654-60.
Stephanie has Seckel Syndrome. It means that while she will never growany taller than her 33 inches, she is expected to livewell into her sixties.