Seckel syndrome

Epidemiology

rare

Genetics

• autosomal recessive
• associated with mutations in ATR, SCKL2, SCKL3 genes
• associated with defects in CENPJ (type 4)
• associated with defects in CEP152 (type 5)

Clinical manifestations

• prenatal dwarfism, low birth weight
• growth retardation
• microcephaly with mental retardation
• characteristic 'bird-headed' facial appearance
• may survive into adulthood

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/210600
• OMIM: https://mirror.omim.org/entry/606744
• OMIM: https://mirror.omim.org/entry/608664
• OMIM: https://mirror.omim.org/entry/613823
• OMIM: https://mirror.omim.org/entry/613676