Perlman syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM
PRLMNS
NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR
Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Number of Symptoms 60
OrphanetNr: 2849
OMIM Id: 267000
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited renal cell cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100880) Nephrogenic rest 3 / 7739
2
 (HPO:0002667) Nephroblastoma Frequent [Orphanet] 30 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
5
 (HPO:0008643) Nephroblastomatosis 2 / 7739
6
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
7
 (HPO:0008696) Renal hamartoma 2 / 7739
8
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
9
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
10
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
11
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
12
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
13
 (HPO:0011341) Long upper lip 5 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
16
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
17
 (HPO:0001999) Abnormal facial shape 169 / 7739
18
 (HPO:0000187) Broad alveolar ridges Frequent [Orphanet] 14 / 7739
19
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
20
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
21
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
22
 (HPO:0005280) Depressed nasal bridge 381 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
25
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
26
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
27
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
28
 (HPO:0000369) Low-set ears 372 / 7739
29
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
30
 (HPO:0011262) Crimped helix Frequent [Orphanet] 12 / 7739
31
 (HPO:0001263) Global developmental delay 853 / 7739
32
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
33
 (HPO:0000842) Hyperinsulinemia Frequent [Orphanet] 39 / 7739
34
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
35
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
36
 (HPO:0004510) Pancreatic islet-cell hyperplasia 9 / 7739
37
 (HPO:0002580) Volvulus 10 / 7739
38
 (HPO:0012090) Abnormality of pancreas morphology Frequent [Orphanet] 31 / 7739
39
 (HPO:0200116) Distal ileal atresia 1 / 7739
40
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
41
 (HPO:0001541) Ascites 94 / 7739
42
 (HPO:0003271) Visceromegaly 8 / 7739
43
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
44
 (HPO:0005247) Hypoplasia of the abdominal wall musculature 4 / 7739
45
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
46
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
47
 (HPO:0001520) Large for gestational age 34 / 7739
48
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
49
 (HPO:0011611) Interrupted aortic arch 10 / 7739
50
 (HPO:0000969) Edema 117 / 7739
51
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
52
 (OMIM) Fetal ascites without hydrops 1 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
54
 (OMIM) Large birth size 1 / 7739
55
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Upsweep of anterior scalp hair 1 / 7739
58
 (OMIM) Round facial fullness 1 / 7739
59
 (OMIM) Anteverted upper lip 1 / 7739
60
 (OMIM) Bilateral renal hamartomas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, ...
Clinical Description OMIM Liban and Kozenitzky (1970) and Perlman et al. (1973) described 5 offspring, of Jewish-Yemenite second-cousin parents, with a disorder manifested by large birth size, bilateral renal hamartomas with or without nephroblastomatosis, hypertrophy of the islets of Langerhans, and ...
Molecular genetics OMIM In a consanguineous Pakistani kindred and 2 Dutch kindreds with Perlman syndrome mapping to chromosome 2q37, Astuti et al. (2012) analyzed 36 candidate genes and identified a failure to amplify exons 6 and 9, respectively, of the DIS3L2 ...