Tetrasomy 18p

General Information (adopted from Orphanet):

Synonyms, Signs: ISOCHROMOSOME 18p SYNDROME
Isochromosome 18p
Number of Symptoms 18
OrphanetNr: 3307
OMIM Id: 614290
ICD-10: Q99.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial trisomy/tetrasomy of the short arm of chromosome 18
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
2
(HPO:0011331) Hemifacial atrophy Occasional [Orphanet] 79 / 7739
3
(HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
4
(HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
5
(HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
6
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
(HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
8
(HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
9
(HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
10
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
11
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
12
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
(HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
14
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
(HPO:0001176) Large hands Occasional [Orphanet] 43 / 7739
16
(HPO:0002571) Achalasia Occasional [Orphanet] 19 / 7739
17
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
18
(HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sebold et al. (2010) summarized the phenotype of tetrasomy 18p with a list of findings reported in more than 25% of theretofore published cases: neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on ...