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:
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 narrow mouth, abnormality of the fontanelles or cranial sutures and macrocephaly. Affiliated tissues include skin, bone 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 75)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 hallmark (90%) HP:0000160
2 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
3 macrocephaly64 hallmark (90%) HP:0000256
4 triangular face64 hallmark (90%) HP:0000325
5 high forehead64 hallmark (90%) HP:0000348
6 hearing impairment64 hallmark (90%) HP:0000365
7 abnormality of the eyelashes64 hallmark (90%) HP:0000499
8 thin skin64 hallmark (90%) HP:0000963
9 arachnodactyly64 hallmark (90%) HP:0001166
10 intrauterine growth retardation64 hallmark (90%) HP:0001511
11 laryngomalacia64 hallmark (90%) HP:0001601
12 frontal bossing64 hallmark (90%) HP:0002007
13 delayed skeletal maturation64 hallmark (90%) HP:0002750
14 abnormality of the hip bone64 hallmark (90%) HP:0003272
15 short stature64 hallmark (90%) HP:0004322
16 abnormal hair quantity64 hallmark (90%) HP:0011362
17 cognitive impairment64 hallmark (90%) HP:0100543
18 lipoatrophy64 hallmark (90%) HP:0100578
19 aplasia/hypoplasia of the eyebrow64 hallmark (90%) HP:0100840
20 cryptorchidism64 typical (50%) HP:0000028
21 convex nasal ridge64 typical (50%) HP:0000444
22 ventriculomegaly64 typical (50%) HP:0002119
23 cerebral cortical atrophy64 typical (50%) HP:0002120
24 advanced eruption of teeth64 typical (50%) HP:0006288
25 long penis64 occasional (7.5%) HP:0000040
26 micrognathia64 occasional (7.5%) HP:0000347
27 limitation of joint mobility64 occasional (7.5%) HP:0001376
28 abnormality of chromosome stability64 occasional (7.5%) HP:0003220
29 hypospadias64 rare (5%) HP:0000047
30 flexion contracture64 rare (5%) HP:0001371
31 hypertriglyceridemia64 rare (5%) HP:0002155
32 parietal bossing64 HP:0000242
33 malar flattening64 HP:0000272
34 hypertelorism64 HP:0000316
35 low-set ears64 HP:0000369
36 narrow nasal ridge64 HP:0000418
37 sparse and thin eyebrow64 HP:0000535
38 upslanted palpebral fissure64 HP:0000582
39 blue sclerae64 HP:0000592
40 entropion64 HP:0000621
41 nystagmus64 HP:0000639
42 sparse eyelashes64 HP:0000653
43 ectropion64 HP:0000656
44 natal tooth64 HP:0000695
45 gynecomastia64 HP:0000771
46 thin ribs64 HP:0000883
47 hypoplastic ilia64 HP:0000946
48 reduced subcutaneous adipose tissue64 HP:0001002
49 hypotrichosis64 HP:0001006
50 prominent scalp veins64 HP:0001043
51 large hands64 HP:0001176
52 intellectual disability64 HP:0001249
53 muscular hypotonia64 HP:0001252
54 global developmental delay64 HP:0001263
55 delayed closure of the anterior fontanelle64 HP:0001476
56 failure to thrive64 HP:0001508
57 small nail64 HP:0001792
58 long foot64 HP:0001833
59 dysphagia64 HP:0002015
60 truncal ataxia64 HP:0002078
61 intention tremor64 HP:0002080
62 recurrent respiratory infections64 HP:0002205
63 sparse scalp hair64 HP:0002209
64 short femur64 HP:0003097
65 sudanophilic leukodystrophy64 HP:0003269
66 widely patent fontanelles and sutures64 HP:0004492
67 short humerus64 HP:0005792
68 absence of subcutaneous fat64 HP:0007485
69 aplasia/hypoplasia of the earlobes64 HP:0009906
70 long toe64 HP:0010511
71 feeding difficulties64 HP:0011968
72 increased serum testosterone level64 HP:0030088
73 abnormality of cardiovascular system morphology64 HP:0030680
74 premature skin wrinkling64 HP:0100678
75 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, Bone, 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