SECKEL SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: SCKL4
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613676
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 100 / 7739
2
(HPO:0000348) High forehead 157 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
5
(HPO:0000369) Low-set ears 372 / 7739
6
(HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
7
(HPO:0010455) Steep acetabular roof 1 / 7739
8
(HPO:0001511) Intrauterine growth retardation 358 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0004325) Decreased body weight 492 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) 11 ribs 2 / 7739
13
(OMIM) Prominent nasal spine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).

For a general description and a discussion ...

Clinical Description OMIM Al-Dosari et al. (2010) described a consanguineous Saudi family in which several members had clinical features of Seckel syndrome. The proposita had intrauterine growth retardation (IUGR), severe failure to thrive, microcephaly, receding chin, high forehead, prominent nasal spine, ...
Molecular genetics OMIM In affected members of a Saudi family segregating Seckel syndrome, Al-Dosari et al. (2010) identified a homozygous splicing mutation in the last nucleotide of intron 11 of the CENPJ gene (IVS11-1G-C; 609279.0004). The mutation fully segregated with the ...