Progeroid syndrome, Petty type

General Information (adopted from Orphanet):

Synonyms, Signs: Petty-Laxova-Wiedemann syndrome
Number of Symptoms 29
OrphanetNr: 2963
OMIM Id: 612289
ICD-10: E34.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Premature aging
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
2
(HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
3
(HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
4
(HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
5
(HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
6
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
7
(HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
8
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
9
(HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
10
(HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
11
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
12
(HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
13
(HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
14
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
16
(HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
17
(HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
18
(HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
19
(HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
20
(HPO:0200040) Epidermoid cyst Very frequent [Orphanet] 35 / 7739
21
(HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
22
(HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
23
(HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
24
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
25
(HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
26
(HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
27
(HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
28
(HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
29
(HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Petty et al. (1990) described what they considered to be a newly recognized form of congenital progeroid syndrome in a 5-year-old girl. They suggested that the 46-year-old woman reported by Wiedemann (1979) had the same syndrome. Common manifestations ...