POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY

General Information (adopted from Orphanet):

Synonyms, Signs: PMSE SYNDROME
PMSE
Number of Symptoms 17
OrphanetNr:
OMIM Id: 611087
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:0000121) Nephrocalcinosis 2/16 [HPO:probinson] 17522105 IBIS 57 / 7739
2
(HPO:0012371) Hyperplasia of midface 16/16 [HPO:probinson] 17522105 IBIS 10 / 7739
3
(HPO:0000215) Thick upper lip vermilion 16/16 [HPO:probinson] 17522105 IBIS 17 / 7739
4
(HPO:0000431) Wide nasal bridge 16/16 [HPO:probinson] 17522105 IBIS 290 / 7739
5
(HPO:0000256) Macrocephaly 15/16 [HPO:probinson] 17522105 IBIS 298 / 7739
6
(HPO:0000154) Wide mouth 16/16 [HPO:probinson] 17522105 IBIS 137 / 7739
7
(HPO:0000316) Hypertelorism 16/16 [HPO:probinson] 17522105 IBIS 644 / 7739
8
(HPO:0000276) Long face 16/16 [HPO:probinson] 17522105 IBIS 109 / 7739
9
(HPO:0000179) Thick lower lip vermilion 16/16 [HPO:probinson] 17522105 IBIS 72 / 7739
10
(HPO:0002003) Large forehead 16/16 [HPO:probinson] 17522105 IBIS 9 / 7739
11
(HPO:0001263) Global developmental delay 17522105 IBIS 853 / 7739
12
(HPO:0000873) Diabetes insipidus 2/16 [HPO:probinson] 17522105 IBIS 34 / 7739
13
(HPO:0001622) Premature birth 15/16 [HPO:probinson] 17522105 IBIS 100 / 7739
14
(HPO:0001561) Polyhydramnios 16/16 [HPO:probinson] 17522105 IBIS 191 / 7739
15
(HPO:0001631) Atria septal defect 4/16 [HPO:probinson] 17522105 IBIS 274 / 7739
16
(HPO:0001252) Muscular hypotonia 16/16 [HPO:probinson] 17522105 IBIS 990 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2007) studied 16 distantly related Old Order Mennonite children with a syndrome they designated PMSE for 'polyhydramnios, megalencephaly, and symptomatic epilepsy.' All affected pregnancies were complicated by polyhydramnios. Spontaneous onset of labor occurred between 25 ...
Molecular genetics OMIM Puffenberger et al. (2007) used single-nucleotide polymorphism (SNP) microarrays to investigate the genetic basis of the disorder in 7 of the 16 children with PMSE available to them for study. Autozygosity mapping was inconclusive, but closer inspection of ...
Population genetics OMIM Puffenberger et al. (2007) stated that developmental delay is the presenting problem for 35% of the approximately 125 Amish and Mennonite patients evaluated each year at the Clinic for Special Children in Lancaster County, Pennsylvania. They genotyped 100 ...