MCID: NNT023
MIFTS: 28

Neonatal Progeroid Syndrome malady

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

Summaries for Neonatal Progeroid Syndrome

About this section
Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 marfan syndrome and hypospadias, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, prominent/bat ears and premature eruption of teeth/natal teeth. An important gene associated with Neonatal Progeroid Syndrome is IGF1 (insulin-like growth factor 1 (somatomedin C)). Affiliated tissues include skin, testes and bone.

Description from OMIM:46 264090

Aliases & Classifications for Neonatal Progeroid Syndrome

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 20GeneTests, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neonatal progeroid syndrome 42 48
wiedemann-rautenstrauch syndrome 42 48 46 60
progeroid syndrome neonatal 42 20
wiedemann rautenstrauch syndrome 42


External Ids:

OMIM46 264090
MESH via Orphanet35 C536423
ICD10 via Orphanet26 E34.8
SNOMED-CT via Orphanet57 238874008
UMLS via Orphanet61 C0406586

Related Diseases for Neonatal Progeroid Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

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

Clinical Features for Neonatal Progeroid Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

264090

Clinical synopsis from OMIM:

264090

Symptoms:

48 (show all 35)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • prominent/bat ears
  • premature eruption of teeth/natal teeth
  • beaked nose
  • ectropion/entropion/eyelid eversion
  • intrauterine growth retardation
  • 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
  • premature ageing
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism
  • 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
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Neonatal Progeroid Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Neonatal Progeroid Syndrome

Drug clinical trials:

Search ClinicalTrials for Neonatal Progeroid Syndrome

Search NIH Clinical Center for Neonatal Progeroid Syndrome

Search CenterWatch for Neonatal Progeroid Syndrome

Genetic Tests for Neonatal Progeroid Syndrome

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Neonatal Progeroid Syndrome:

id Genetic test Affiliating Genes
1 Neonatal Progeroid Syndrome20

Anatomical Context for Neonatal Progeroid Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Neonatal Progeroid Syndrome:

32
Skin, Testes, Bone, Eye

Animal Models for Neonatal Progeroid Syndrome or affiliated genes

About this section

Publications for Neonatal Progeroid Syndrome

About this section

Genetic Variations for Neonatal Progeroid Syndrome

About this section

Expression for genes affiliated with Neonatal Progeroid Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Neonatal Progeroid Syndrome

About this section

GO Terms for genes affiliated with Neonatal Progeroid Syndrome

About this section

Products for genes affiliated with Neonatal Progeroid Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neonatal Progeroid Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet