Skip to search formSkip to main contentSkip to account menu

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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal.
Two cases of camptomelic dwarfism are presented, both with a normal male karyotype but female phenotype. One of the children died… 
2004
2004
Seckel syndrome with polyarteritis nodosa.
Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. It could affect many organ systems but renal… 
1982
1982
Relationship between Sleep Stage IV Deficit and Reversible HGH Deficiency in Psychosocial Dwarfism
Summary: Polygraphic sleep recordings were done in four children with psychosocial dwarfism. The first recordings, performed… 
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
Ultraviolet light-induced sister chromatid exchanges in xeroderma pigmentosum and in Cockayne's syndrome lymphocyte cell lines.
Sister chromatid exchanges (SCE's) were studied in lymphocyte cell lines derived from 11 patients with xeroderma pigmentosum (XP… 
1977
1977
Taurodontism, short roots, and external resorption, associated with short stature and a small head.
1974
1974
Excretion of mannose-rich complex carbohydrates by a patient with alpha-mannosidase deficiency (mannosidosis).
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… 
Highly Cited
1967
Highly Cited
1967
Seckel's bird-headed dwarfism.
SECKEL1 described 2 unrelated patients with a condition for which he used Virchow's designation "bird-headed dwarf." Although… 
1959
1959
The syndrome of brachymetacarpal dwarfism (pseudo-pseudohypoparathyroidism) with and without gonadal dysgenesis.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)