Kousseff syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Sacral meningocele - conotroncal heart defects
Number of Symptoms 10
OrphanetNr: 2351
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0002162) Low posterior hairline Occasional [Orphanet] 88 / 7739
3
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
4
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
5
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
6
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
7
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
8
 (HPO:0002475) Myelomeningocele Very frequent [Orphanet] 29 / 7739
9
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: