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Seckel syndrome

Known as: SCKL1, SECKEL SYNDROME 1, seckel's syndrome 
A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2… 
National Institutes of Health

Related topics

Related topics

29 relations
ATR, 2101A-GAutosomal recessive inheritanceBird headed dwarfism Montreal typeBlepharophimosis

Broader (3)

DwarfismFaciesMicrocephaly

Papers overview

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1985
1985
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.
We are reporting on two Lehrerleut Hutterite sisters who have a syndrome of congenital shortness with mild spondylorhizomelic… 
1979
1979
Seckel's dwarfism: analysis of chromosome breakage and sister chromatid exchanges.
In the monograph by Seckel,1the phenotype of "bird-headed" dwarfs has been delineated in detail. Main features include… 
1978
1978
Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism.
Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal… 
1978
1978
[Familial mesomelial dwarfism (Nievergelt syndrome)].
Familial mesomelic dwarfism was first described in 1944 by K. NIEVERGELT, who reported on a father and 3 sons by 3 different… 
Review
1974
Review
1974
Isolated growth hormone deficiency and related disorders.
This brief discussion wm consider those forms of dwarfism characterized either by a mono tropic deficiency of human growth… 
1974
1974
Late puberty, retarded growth and reversible hyposomatotropinism (psychosocial dwarfism).
1973
1973
Familial Bird-headed Dwarfism (Seckel's Syndrome)
Low birth weight dwarfism with mental retardation, large eyes, a beaklike nose, narrow face, receding mandible, and dental… 
1973
1973
Effect of L-5-HTP on the release of growth hormone, TSH and insulin.
Effect of L-5-HTP (L-5-hydroxytryptophane) on the release of human growth hormone (HGH), thyroid stimulating hormone (TSH) and… 
1970
1970
An unusual bone dysplasia: parastremmatic dwarfism.
The term parastremmatic dwarfism is suggested for a bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion… 
1966
1966
Sexual ateliotic dwarfism: a recessively inherited isolated deficiency of growth hormone.