HYDROLETHALUS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: HLS2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614120
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:0000175) Cleft palate 349 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0100258) Preaxial polydactyly 39 / 7739
4
(HPO:0100259) Postaxial polydactyly 85 / 7739
5
(HPO:0001360) Holoprosencephaly 29 / 7739
6
(HPO:0000238) Hydrocephalus 278 / 7739
7
(OMIM) Duplication of the hallux 2 / 7739
8
(HPO:0002119) Ventriculomegaly 253 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Malformations of the mid- and hindbrain 1 / 7739
11
(HPO:0002323) Anencephaly 28 / 7739
12
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
13
(HPO:0002419) Molar tooth sign on MRI 27 / 7739
14
(HPO:0002139) Arrhinencephaly 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 ...
Clinical Description OMIM Putoux et al. (2011) reported a consanguineous Algerian family in which 4 sib fetuses had a lethal developmental disorder consistent with hydrolethalus syndrome. The fetuses ranged in age from 11 to 15 weeks' gestation. Two had anencephaly, 1 ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene analysis of a consanguineous Algerian family with hydrolethalus syndrome, Putoux et al. (2011) identified a homozygous deletion in the KIF7 gene (611254.0001) in affected individuals.