MCID: PRG123
MIFTS: 22

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:
24GeneTests, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Progeroid Syndrome, Neonatal:

Name: Progeroid Syndrome, Neonatal 52
Wiedemann-Rautenstrauch Syndrome 48 24 54 68
Neonatal Progeroid Syndrome 48 24 54
 
Wiedemann Rautenstrauch Syndrome 48
Progeroid Syndrome Neonatal 48

Characteristics:

Orphanet epidemiological data:

54
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
progeroid syndrome, neonatal:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 264090
Orphanet54 ORPHA3455
MESH via Orphanet40 C536423
UMLS via Orphanet69 C0406586
ICD10 via Orphanet31 E34.8

Summaries for Progeroid Syndrome, Neonatal

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NIH Rare Diseases:48 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 action tremor, ataxia, truncal and cryptorchidism. Affiliated tissues include skin and eye.

OMIM:52 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
1entropion9.9
2marfan syndrome9.8
3scoliosis9.8
4hypospadias9.8
5lipodystrophy9.8

Graphical network of diseases related to Progeroid Syndrome, Neonatal:



Diseases related to progeroid syndrome, neonatal

Symptoms & Phenotypes for Progeroid Syndrome, Neonatal

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Symptoms by clinical synopsis from OMIM:

264090

Clinical features from OMIM:

264090

Human phenotypes related to Progeroid Syndrome, Neonatal:

 64 (show all 58)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 long penis64 HP:0000040
3 hypospadias64 HP:0000047
4 narrow mouth64 HP:0000160
5 parietal bossing64 HP:0000242
6 macrocephaly64 HP:0000256
7 malar flattening64 HP:0000272
8 hypertelorism64 HP:0000316
9 triangular face64 HP:0000325
10 micrognathia64 HP:0000347
11 low-set ears64 HP:0000369
12 absent earlobe64 HP:0000387
13 narrow nasal ridge64 HP:0000418
14 sparse and thin eyebrow64 HP:0000535
15 upslanted palpebral fissure64 HP:0000582
16 blue sclerae64 HP:0000592
17 entropion64 HP:0000621
18 nystagmus64 HP:0000639
19 sparse eyelashes64 HP:0000653
20 ectropion64 HP:0000656
21 natal tooth64 HP:0000695
22 gynecomastia64 HP:0000771
23 thin ribs64 HP:0000883
24 hypoplastic ilia64 HP:0000946
25 thin skin64 HP:0000963
26 hypotrichosis64 HP:0001006
27 prominent scalp veins64 HP:0001043
28 large hands64 HP:0001176
29 intellectual disability64 HP:0001249
30 muscular hypotonia64 HP:0001252
31 global developmental delay64 HP:0001263
32 flexion contracture64 HP:0001371
33 delayed closure of the anterior fontanelle64 HP:0001476
34 failure to thrive64 HP:0001508
35 intrauterine growth retardation64 HP:0001511
36 small nail64 HP:0001792
37 long foot64 HP:0001833
38 dysphagia64 HP:0002015
39 truncal ataxia64 HP:0002078
40 intention tremor64 HP:0002080
41 hypertriglyceridemia64 HP:0002155
42 recurrent respiratory infections64 HP:0002205
43 sparse scalp hair64 HP:0002209
44 short femur64 HP:0003097
45 sudanophilic leukodystrophy64 HP:0003269
46 reduced subcutaneous adipose tissue64 HP:0003758
47 short stature64 HP:0004322
48 widely patent fontanelles and sutures64 HP:0004492
49 short humerus64 HP:0005792
50 absence of subcutaneous fat64 HP:0007485
51 aplasia/hypoplasia of the earlobes64 HP:0009906
52 long toe64 HP:0010511
53 feeding difficulties64 HP:0011968
54 increased serum testosterone level64 HP:0030088
55 abnormality of cardiovascular system morphology64 HP:0030680
56 lipoatrophy64 HP:0100578
57 premature skin wrinkling64 HP:0100678
58 long fingers64 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 Syndrome24

Anatomical Context for Progeroid Syndrome, Neonatal

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MalaCards organs/tissues related to Progeroid Syndrome, Neonatal:

36
Skin, Eye

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet