TRISOMY 18-LIKE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 601161
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:0000581) Blepharophimosis 197 / 7739
2
(HPO:0000506) Telecanthus 156 / 7739
3
(HPO:0000431) Wide nasal bridge 290 / 7739
4
(HPO:0000347) Micrognathia 426 / 7739
5
(HPO:0000369) Low-set ears 372 / 7739
6
(HPO:0000384) Preauricular skin tag 62 / 7739
7
(HPO:0000377) Abnormality of the pinna 111 / 7739
8
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
9
(OMIM) Deficient alae nasi 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
12
(OMIM) Complex congenital heart defect 3 / 7739
13
(OMIM) ? mosaicism for trisomy 18 in the liver 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shashi et al. (1996) described a newborn infant with first-cousin parents who had a complex congenital heart defect and minor anomalies suggestive of trisomy 18. Blood lymphocyte and skin fibroblast karyotypes were normal. He died in the neonatal ...