MCID: NNT023
MIFTS: 27

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:
45NIH Rare Diseases, 51Orphanet, 22GeneTests, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
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Aliases & Descriptions for Neonatal Progeroid Syndrome:

Name: Neonatal Progeroid Syndrome 45 51
Wiedemann-Rautenstrauch Syndrome 45 22 51 65
 
Progeroid Syndrome Neonatal 45 22
Wiedemann Rautenstrauch Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
wiedemann-rautenstrauch syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 3455
ICD10 via Orphanet28 E34.8
MESH via Orphanet37 C536423
UMLS via Orphanet66 C0406586

Summaries for Neonatal Progeroid Syndrome

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NIH Rare Diseases:45 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: Neonatal Progeroid Syndrome, also known as wiedemann-rautenstrauch syndrome, is related to entropion and marfan syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, large fontanelle/delayed fontanelle closure and frontal bossing/prominent forehead. Affiliated tissues include skin, testes and bone.

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:

 51 (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

Drugs & Therapeutics for Neonatal Progeroid Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22

Anatomical Context for Neonatal Progeroid Syndrome

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MalaCards organs/tissues related to Neonatal Progeroid Syndrome:

33
Skin, Testes, Bone, Eye

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 26)
idTitleAuthorsYear
1
Anesthesia in an Aging Infant: Neonatal Progeroid Syndrome. (26422454)
2015
2
Another case of neonatal progeroid syndrome and bilateral congenital upper eyelid entropion. (25069079)
2014
3
Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome. (24807800)
2014
4
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs. (21671373)
2011
5
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. (20979188)
2010
6
Natural course of neonatal progeroid syndrome. (19579756)
2009
7
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. (20162872)
2009
8
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging? (17728088)
2007
9
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. (17523150)
2007
10
Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome. (16480483)
2006
11
Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. (11568921)
2001
12
A new case of neonatal progeroid syndrome with agenesis of corpus callosum. (10631926)
1999
13
Clinical manifestation of a severe neonatal progeroid syndrome. (9137887)
1997
14
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. (9220191)
1997
15
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients. (9152846)
1997
16
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. (9192279)
1997
17
Clinical variability in neonatal progeroid syndrome. (8533814)
1995
18
The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. (7551161)
1995
19
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher's disease. (7609841)
1995
20
Cytogenetic and DNA repair studies in a patient affected by the neonatal progeroid syndrome. (1482073)
1992
21
Neonatal progeroid syndrome: more than one disease? (2301475)
1990
22
Neonatal progeroid syndrome: report of a Japanese infant. (3448307)
1987
23
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. (6200796)
1984
24
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. (7262096)
1981
25
A new neonatal progeroid syndrome. (7262106)
1981
26
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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GO Terms for genes affiliated with Neonatal Progeroid Syndrome

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Sources for Neonatal Progeroid Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet