Seckel syndrome

Also known as: Bird-headed dwarfism

Severe proportionate short stature with microcephaly and beaked nose.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: ATR, ATRIP, CENPJ, CEP152, CEP63, DNA2, NIN, RBBP8, TRAIP

Etiology & mechanism

DNA damage response and centrosome defects.

Gene(s) involved (9)

ATRATRIPCENPJCEP152CEP63DNA2NINRBBP8TRAIP

Symptoms & signs (6)

beaked nosebird-like faceintellectual disabilitymicrocephalypancytopenia (some)severe short stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.