Lethal occipital encephalocele-skeletal dysplasia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RHFCA
Number of Symptoms 7
OrphanetNr: 293925
OMIM Id: 614416
ICD-10: Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly 22019272 IBIS 222 / 7739
2
 (HPO:0002085) Occipital encephalocele 22019272 IBIS 20 / 7739
3
 (HPO:0001363) Craniosynostosis 22019272 IBIS 132 / 7739
4
 (HPO:0001166) Arachnodactyly 22019272 IBIS 62 / 7739
5
 (HPO:0003041) Humeroradial synostosis 22019272 IBIS 19 / 7739
6
 (HPO:0012165) Oligodactyly 22019272 IBIS 18 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Laue et al. (2011) reported 3 sibs and an unrelated Turkish patient with craniosynostosis and multiple skeletal anomalies. The 3 sibs, born to first-cousin parents, exhibited occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. ...
Molecular genetics OMIM By sequencing 6 genes in a region of homozygosity in sibs with radiohumeral fusions and other skeletal and craniofacial anomalies, Laue et al. (2011) identified a homozygous null mutation (R363L; 605207.0001) in the CYP26B1 gene in all 3 ...