MCID: PRG123
MIFTS: 23

Progeroid Syndrome, Neonatal malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Progeroid Syndrome, Neonatal

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Progeroid Syndrome, Neonatal:

Name: Progeroid Syndrome, Neonatal 50
Wiedemann-Rautenstrauch Syndrome 46 23 52 66
Neonatal Progeroid Syndrome 46 23 52
 
Wiedemann Rautenstrauch Syndrome 46
Progeroid Syndrome Neonatal 46

Characteristics:

Orphanet epidemiological data:

52
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
progeroid syndrome, neonatal:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 264090
Orphanet52 ORPHA3455
ICD10 via Orphanet29 E34.8
MESH via Orphanet38 C536423
UMLS via Orphanet67 C0406586

Summaries for Progeroid Syndrome, Neonatal

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NIH Rare Diseases:46 Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. in most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. treatment is symptomatic and supportive. last updated: 4/15/2015

MalaCards based summary: Progeroid Syndrome, Neonatal, also known as wiedemann-rautenstrauch syndrome, is related to entropion and marfan syndrome, and has symptoms including narrow mouth, abnormality of the fontanelles or cranial sutures and macrocephaly. Affiliated tissues include skin, bone and eye.

OMIM:50 The neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome, is a rare autosomal recessive disorder... (264090) more...

Related Diseases for Progeroid Syndrome, Neonatal

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Diseases related to Progeroid Syndrome, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1entropion10.0
2marfan syndrome9.9
3scoliosis9.9
4hypospadias9.9
5lipodystrophy9.9

Graphical network of diseases related to Progeroid Syndrome, Neonatal:



Diseases related to progeroid syndrome, neonatal

Symptoms for Progeroid Syndrome, Neonatal

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Symptoms by clinical synopsis from OMIM:

264090

Clinical features from OMIM:

264090

HPO human phenotypes related to Progeroid Syndrome, Neonatal:

(show all 85)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
3 macrocephaly hallmark (90%) HP:0000256
4 triangular face hallmark (90%) HP:0000325
5 high forehead hallmark (90%) HP:0000348
6 hearing impairment hallmark (90%) HP:0000365
7 abnormality of the eyelashes hallmark (90%) HP:0000499
8 thin skin hallmark (90%) HP:0000963
9 arachnodactyly hallmark (90%) HP:0001166
10 intrauterine growth retardation hallmark (90%) HP:0001511
11 laryngomalacia hallmark (90%) HP:0001601
12 frontal bossing hallmark (90%) HP:0002007
13 delayed skeletal maturation hallmark (90%) HP:0002750
14 abnormality of the hip bone hallmark (90%) HP:0003272
15 short stature hallmark (90%) HP:0004322
16 abnormal hair quantity hallmark (90%) HP:0011362
17 cognitive impairment hallmark (90%) HP:0100543
18 lipoatrophy hallmark (90%) HP:0100578
19 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
20 cryptorchidism typical (50%) HP:0000028
21 convex nasal ridge typical (50%) HP:0000444
22 ventriculomegaly typical (50%) HP:0002119
23 cerebral cortical atrophy typical (50%) HP:0002120
24 advanced eruption of teeth typical (50%) HP:0006288
25 long penis occasional (7.5%) HP:0000040
26 micrognathia occasional (7.5%) HP:0000347
27 limitation of joint mobility occasional (7.5%) HP:0001376
28 abnormality of chromosome stability occasional (7.5%) HP:0003220
29 hypospadias rare (5%) HP:0000047
30 flexion contracture rare (5%) HP:0001371
31 hypertriglyceridemia rare (5%) HP:0002155
32 cryptorchidism HP:0000028
33 long penis HP:0000040
34 narrow mouth HP:0000160
35 parietal bossing HP:0000242
36 macrocephaly HP:0000256
37 malar flattening HP:0000272
38 hypertelorism HP:0000316
39 triangular face HP:0000325
40 micrognathia HP:0000347
41 low-set ears HP:0000369
42 narrow nasal ridge HP:0000418
43 sparse and thin eyebrow HP:0000535
44 upslanted palpebral fissure HP:0000582
45 blue sclerae HP:0000592
46 entropion HP:0000621
47 nystagmus HP:0000639
48 sparse eyelashes HP:0000653
49 ectropion HP:0000656
50 natal tooth HP:0000695
51 gynecomastia HP:0000771
52 thin ribs HP:0000883
53 hypoplastic ilia HP:0000946
54 thin skin HP:0000963
55 reduced subcutaneous adipose tissue HP:0001002
56 hypotrichosis HP:0001006
57 prominent scalp veins HP:0001043
58 large hands HP:0001176
59 intellectual disability HP:0001249
60 muscular hypotonia HP:0001252
61 global developmental delay HP:0001263
62 delayed closure of the anterior fontanelle HP:0001476
63 failure to thrive HP:0001508
64 intrauterine growth retardation HP:0001511
65 small nail HP:0001792
66 long foot HP:0001833
67 dysphagia HP:0002015
68 truncal ataxia HP:0002078
69 intention tremor HP:0002080
70 recurrent respiratory infections HP:0002205
71 sparse scalp hair HP:0002209
72 short femur HP:0003097
73 sudanophilic leukodystrophy HP:0003269
74 short stature HP:0004322
75 widely patent fontanelles and sutures HP:0004492
76 short humerus HP:0005792
77 absence of subcutaneous fat HP:0007485
78 aplasia/hypoplasia of the earlobes HP:0009906
79 long toe HP:0010511
80 feeding difficulties HP:0011968
81 increased serum testosterone level HP:0030088
82 abnormality of cardiovascular system morphology HP:0030680
83 lipoatrophy HP:0100578
84 premature skin wrinkling HP:0100678
85 long fingers HP:0100807

UMLS symptoms related to Progeroid Syndrome, Neonatal:


action tremor, ataxia, truncal

Drugs & Therapeutics for Progeroid Syndrome, Neonatal

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813

Search NIH Clinical Center for Progeroid Syndrome, Neonatal

Genetic Tests for Progeroid Syndrome, Neonatal

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Genetic tests related to Progeroid Syndrome, Neonatal:

id Genetic test Affiliating Genes
1 Neonatal Progeroid Syndrome23

Anatomical Context for Progeroid Syndrome, Neonatal

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MalaCards organs/tissues related to Progeroid Syndrome, Neonatal:

34
Skin, Bone, Eye

Animal Models for Progeroid Syndrome, Neonatal or affiliated genes

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Publications for Progeroid Syndrome, Neonatal

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Variations for Progeroid Syndrome, Neonatal

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Expression for genes affiliated with Progeroid Syndrome, Neonatal

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Search GEO for disease gene expression data for Progeroid Syndrome, Neonatal.

Pathways for genes affiliated with Progeroid Syndrome, Neonatal

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GO Terms for genes affiliated with Progeroid Syndrome, Neonatal

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Sources for Progeroid Syndrome, Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet