Seckel

Question 1

fenotyp

Answer 1

porucha reparace, AR, ATR1 gen

microcephalicprimordial dwarfism(also known asbird-headed dwarfism,Harper’s syndrome,Virchow–Seckel dwarfismandbird-headed dwarf of Seckel[1]) is an extremely rarecongenitalnanosomicdisorder. Inheritance isautosomal recessive.[2]It is characterized byintrauterine growth restrictionand postnataldwarfismwith asmall head, narrow bird-like face with a beak-like nose, large eyes with down-slantingpalpebral fissures,[3]recedingmandibleandintellectual disability.

Symptoms include:

intellectual disability(more than half of the patients have an IQ below 50)

microcephaly

sometimespancytopenia(low blood counts)

cryptorchidismin males

low birth weight

dislocations of pelvis and elbow

unusually large eyes

blindness or visual impairment

large, low-set ears

small chin due to receded lower jaw