SECKEL SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: SECKEL-TYPE DWARFISM 2
MICROCEPHALIC PRIMORDIAL DWARFISM 2
SCKL2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 606744
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:0000086) Ectopic kidney rare [HPO:skoehler] 29 / 7739
2
(HPO:0000047) Hypospadias 11781686 IBIS 250 / 7739
3
(HPO:0000448) Prominent nose 21998596 IBIS 56 / 7739
4
(HPO:0000341) Narrow forehead 21998596 IBIS 96 / 7739
5
(HPO:0000171) Microglossia 27 / 7739
6
(HPO:0000252) Microcephaly 21998596 IBIS 832 / 7739
7
(HPO:0000568) Microphthalmia 183 / 7739
8
(HPO:0000347) Micrognathia 426 / 7739
9
(HPO:0000691) Microdontia 104 / 7739
10
(HPO:0011342) Mild global developmental delay 21998596 IBIS 10 / 7739
11
(HPO:0004209) Clinodactyly of the 5th finger 21998596 IBIS 288 / 7739
12
(HPO:0001510) Growth delay 21998596 IBIS 295 / 7739
13
(HPO:0001518) Small for gestational age 107 / 7739
14
(HPO:0007429) Few cafe-au-lait spots 21998596 IBIS 7 / 7739
15
(HPO:0001620) High pitched voice 4/4 [HPO:probinson] 11781686 IBIS 32 / 7739
16
(HPO:0001321) Cerebellar hypoplasia 11781686 IBIS 114 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(HPO:0030148) Heart murmur 29 / 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 growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).

For a general phenotypic description and a discussion of genetic heterogeneity ...

Clinical Description OMIM Borglum et al. (2001) studied a consanguineous family of Iraqi descent with Seckel syndrome. The parents were first cousins and had 4 children who fulfilled the criteria for Seckel syndrome, as well as a younger healthy girl. Borglum ...
Molecular genetics OMIM In a consanguineous Iraqi family with Seckel syndrome mapping to chromosome 18p11.31-q11.2, previously studied by Borglum et al. (2001), Qvist et al. (2011) sequenced the candidate gene RBBP8 and identified homozygosity for a splice site mutation (604124.0001) that ...