SECKEL SYNDROME 5

General Information (adopted from Orphanet):

Synonyms, Signs: SCKL5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613823
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000278) Retrognathia 21131973 IBIS 100 / 7739
2
(HPO:0000340) Sloping forehead 21131973 IBIS 86 / 7739
3
(HPO:0003683) Large beaked nose 21131973 IBIS 4 / 7739
4
(HPO:0000252) Microcephaly 21131973 IBIS 832 / 7739
5
(HPO:0000426) Prominent nasal bridge 21131973 IBIS 121 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(HPO:0002536) Abnormal cortical gyration 21131973 IBIS 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).

For a general phenotypic description and a discussion ...

Clinical Description OMIM Kalay et al. (2011) clinically evaluated 5 consanguineous families with Seckel syndrome originating from an isolated rural area in Turkey. The patients presented with microcephaly, sloping forehead, high nasal bridge, beaked nose, and retrognathia. Cranial magnetic resonance imaging ...
Molecular genetics OMIM Kalay et al. (2011) sequenced the candidate gene CEP152 in affected members of 3 Turkish families segregating Seckel syndrome mapping to chromosome 15q21.1-q21.2 and identified a homozygous splice site mutation in intron 4 (613529.0003), which cosegregated with the ...