MCID: NNT023
MIFTS: 33

Neonatal Progeroid Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Neonatal Progeroid Syndrome

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Neonatal Progeroid Syndrome, also known as wiedemann-rautenstrauch syndrome, is related to hypospadias and marfan syndrome, and has symptoms including premature ageing, chromosome breakage and long hand/arachnodactyly. An important gene associated with Neonatal Progeroid Syndrome is IGF1 (insulin-like growth factor 1 (somatomedin C)). Affiliated tissues include skin, testes and eye.

Description from OMIM:47 264090

Aliases & Classifications for Neonatal Progeroid Syndrome

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Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neonatal progeroid syndrome 43 49
wiedemann-rautenstrauch syndrome 43 49 47 62
progeroid syndrome neonatal 43 20
wiedemann rautenstrauch syndrome 43


External Ids:

OMIM47 264090
MESH via Orphanet36 C536423
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet59 238874008
UMLS via Orphanet63 C0406586

Related Diseases for Neonatal Progeroid Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neonatal Progeroid Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypospadias10.2
2marfan syndrome10.2
3lipodystrophy10.2

Symptoms for Neonatal Progeroid Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

264090

Clinical features from OMIM:

264090

Symptoms:

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

Drugs & Therapeutics for Neonatal Progeroid Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests
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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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Sources:
33MalaCards
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MalaCards organs/tissues related to Neonatal Progeroid Syndrome:

33
Skin, Testes, Eye, Bone

Animal Models for Neonatal Progeroid Syndrome or affiliated genes

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Publications for Neonatal Progeroid Syndrome

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Sources:
52PubMed
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Articles related to Neonatal Progeroid Syndrome:

(show all 23)
idTitleAuthorsYear
1
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. (21671373)
2011
2
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. (20979188)
2010
3
Natural course of neonatal progeroid syndrome. (19579756)
2009
4
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. (20162872)
2009
5
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? (17728088)
2007
6
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. (17523150)
2007
7
Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome. (16480483)
2006
8
Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. (11568921)
2001
9
A new case of neonatal progeroid syndrome with agenesis of corpus callosum. (10631926)
1999
10
Clinical manifestation of a severe neonatal progeroid syndrome. (9137887)
1997
11
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. (9220191)
1997
12
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. (9152846)
1997
13
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. (9192279)
1997
14
Clinical variability in neonatal progeroid syndrome. (8533814)
1995
15
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. (7551161)
1995
16
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher's disease. (7609841)
1995
17
Cytogenetic and DNA repair studies in a patient affected by the neonatal progeroid syndrome. (1482073)
1992
18
Neonatal progeroid syndrome: more than one disease? (2301475)
1990
19
Neonatal progeroid syndrome: report of a Japanese infant. (3448307)
1987
20
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. (6200796)
1984
21
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. (7262096)
1981
22
A new neonatal progeroid syndrome. (7262106)
1981
23
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neonatal Progeroid Syndrome

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

Sources for Neonatal Progeroid Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet