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Seckel syndrome

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.

Identifiers
MONDO:0019342 Orphanet:808
Part of
Autosomal recessive diseaseSyndromic disease
Also known as
bird-headed dwarfism · nanocephalic Dwarfism · SCKL · Seckel-type Dwarfism

Subtypes

All diseases Rare only
Disease Subtypes
Seckel syndrome 1
Seckel syndrome 10
Seckel syndrome 11
Seckel syndrome 2
Seckel syndrome 4
Seckel syndrome 5
Seckel syndrome 6
Seckel syndrome 7
Seckel syndrome 8
Seckel syndrome 9
Intrauterine growth retardation with increased mitomycin c sensitivity
Microcephaly 13, primary, autosomal recessive

Rare disease

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