MCID: NNT023
MIFTS: 28

Neonatal Progeroid Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Neonatal Progeroid Syndrome

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Sources:
41NIH Rare Diseases, 20GeneTests, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Neonatal Progeroid Syndrome, Aliases & Descriptions:

Name: Neonatal Progeroid Syndrome 41 47
Wiedemann-Rautenstrauch Syndrome 41 47 60
 
Progeroid Syndrome Neonatal 41 20
Wiedemann Rautenstrauch Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 3455
MESH via Orphanet34 C536423
ICD10 via Orphanet26 E34.8
UMLS via Orphanet61 C0406586

Summaries for Neonatal Progeroid Syndrome

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NIH Rare Diseases:41 Neonatal progeroid syndrome is a premature aging syndrome in which features of human aging are apparent at birth, including larger than nomal sized head; prominent scalp veins; triangular, aged face; wrinkled skin; and decreased fat under the skin. this differentiates this syndrome from other premature aging syndromes such as hutchinson–gilford progeria syndrome (hgps) (more commonly called progeria) in which characteristics of premature aging typically become apparent some time after birth. although the exact cause of neonatal progeroid syndrome is unknown, it is believed to be genetic and inherited in an autosomal recessive fashion. treatment is based on the individual's specific symptoms. last updated: 2/16/2010

MalaCards based summary: Neonatal Progeroid Syndrome, 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. An important gene associated with Neonatal Progeroid Syndrome is IGF1 (insulin-like growth factor 1 (somatomedin C)). Affiliated tissues include skin, bone and testes.

Related Diseases for Neonatal Progeroid Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1entropion10.3
2marfan syndrome10.2
3hypospadias10.2
4lipodystrophy10.2
5scoliosis10.2

Graphical network of diseases related to Neonatal Progeroid Syndrome:



Diseases related to neonatal progeroid syndrome

Symptoms for Neonatal Progeroid Syndrome

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Symptoms:

 47 (show all 35)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • high forehead
  • triangular face
  • absent/decreased/thin eyebrows
  • absent/decreased lashes
  • microstomia/little mouth
  • hearing loss/hypoacusia/deafness
  • long hand/arachnodactyly
  • thin skin
  • lipoatrophy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • laryngomalacia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • intrauterine growth retardation
  • ectropion/entropion/eyelid eversion
  • beaked nose
  • premature eruption of teeth/natal teeth
  • prominent/bat ears
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • death in infancy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • macropenis/megapenis/large penis
  • restricted joint mobility/joint stiffness/ankylosis
  • chromosome breakage

HPO human phenotypes related to Neonatal Progeroid Syndrome:

(show all 31)
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 prematurely aged appearance hallmark (90%) HP:0007495
17 abnormal hair quantity hallmark (90%) HP:0011362
18 cognitive impairment hallmark (90%) HP:0100543
19 lipoatrophy hallmark (90%) HP:0100578
20 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
21 cryptorchidism typical (50%) HP:0000028
22 abnormality of the pinna typical (50%) HP:0000377
23 convex nasal ridge typical (50%) HP:0000444
24 ventriculomegaly typical (50%) HP:0002119
25 cerebral cortical atrophy typical (50%) HP:0002120
26 advanced eruption of teeth typical (50%) HP:0006288
27 enlarged penis occasional (7.5%) HP:0000040
28 micrognathia occasional (7.5%) HP:0000347
29 limitation of joint mobility occasional (7.5%) HP:0001376
30 malformation of the heart and great vessels occasional (7.5%) HP:0002564
31 abnormality of chromosome stability occasional (7.5%) HP:0003220

Drugs & Therapeutics for Neonatal Progeroid Syndrome

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Drug clinical trials:

Search ClinicalTrials for Neonatal Progeroid Syndrome

Search NIH Clinical Center for Neonatal Progeroid Syndrome

Genetic Tests for Neonatal Progeroid Syndrome

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Genetic tests related to Neonatal Progeroid Syndrome:

id Genetic test Affiliating Genes
1 Neonatal Progeroid Syndrome20

Anatomical Context for Neonatal Progeroid Syndrome

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MalaCards organs/tissues related to Neonatal Progeroid Syndrome:

31
Skin, Bone, Testes, Eye, Heart

Animal Models for Neonatal Progeroid Syndrome or affiliated genes

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Publications for Neonatal Progeroid Syndrome

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Articles related to Neonatal Progeroid Syndrome:

(show all 24)
idTitleAuthorsYear
1
Another case of neonatal progeroid syndrome and bilateral congenital upper eyelid entropion. (25069079)
2014
2
Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome. (24807800)
2014
3
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. (21671373)
2011
4
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. (20979188)
2010
5
Natural course of neonatal progeroid syndrome. (19579756)
2009
6
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. (20162872)
2009
7
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? (17728088)
2007
8
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. (17523150)
2007
9
Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome. (16480483)
2006
10
A new case of neonatal progeroid syndrome with agenesis of corpus callosum. (10631926)
1999
11
Clinical manifestation of a severe neonatal progeroid syndrome. (9137887)
1997
12
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. (9220191)
1997
13
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. (9152846)
1997
14
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. (9192279)
1997
15
Clinical variability in neonatal progeroid syndrome. (8533814)
1995
16
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. (7551161)
1995
17
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher's disease. (7609841)
1995
18
Cytogenetic and DNA repair studies in a patient affected by the neonatal progeroid syndrome. (1482073)
1992
19
Neonatal progeroid syndrome: more than one disease? (2301475)
1990
20
Neonatal progeroid syndrome: report of a Japanese infant. (3448307)
1987
21
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. (6200796)
1984
22
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. (7262096)
1981
23
A new neonatal progeroid syndrome. (7262106)
1981
24
An unidentified neonatal progeroid syndrome: follow-up report. (569581)
1979

Variations for Neonatal Progeroid Syndrome

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Expression for genes affiliated with Neonatal Progeroid Syndrome

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

Pathways for genes affiliated with Neonatal Progeroid Syndrome

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Compounds for genes affiliated with Neonatal Progeroid Syndrome

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GO Terms for genes affiliated with Neonatal Progeroid Syndrome

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Products for genes affiliated with Neonatal Progeroid Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neonatal Progeroid Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet