Severe proportionate short stature with microcephaly and beaked nose.
- 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
- Alternative names & eponyms
- Bird-headed dwarfism
Etiology & mechanism
DNA damage response and centrosome defects.
Gene(s) involved (9)
Symptoms & signs (6)
In plain terms, someone with Seckel syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Rubinstein–Taybi syndrome
beaked nose, intellectual disability, microcephaly
2 shared
Cohen syndrome
intellectual disability, microcephaly
2 shared
Cri du chat syndrome
intellectual disability, microcephaly
2 shared
Fetal alcohol syndrome
intellectual disability, microcephaly
2 shared
Kleefstra syndrome
intellectual disability, microcephaly
2 shared
Nijmegen breakage syndrome
bird-like face, microcephaly
2 shared
Sanjad–Sakati syndrome
intellectual disability, microcephaly
2 shared
Smith–Lemli–Opitz syndrome
intellectual disability, microcephaly
1 shared
Aicardi–Goutières syndrome
microcephaly
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
Shares genes with
None.
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