MCID: NNT023
MIFTS: 34

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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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 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. 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:46 264090

Aliases & Classifications for Neonatal Progeroid Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 20GeneTests, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Neonatal Progeroid Syndrome, Aliases & Descriptions:

Name: Neonatal Progeroid Syndrome 42 48
Wiedemann-Rautenstrauch Syndrome 42 48 46 62
 
Progeroid Syndrome Neonatal 42 20
Wiedemann Rautenstrauch Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 264090
MESH via Orphanet35 C536423
ICD10 via Orphanet26 E34.8
UMLS via Orphanet63 C0406586

Related Diseases for Neonatal Progeroid Syndrome

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

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

Symptoms for Neonatal Progeroid Syndrome

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Symptoms by clinical synopsis from OMIM:

264090

Clinical features from OMIM:

264090

Symptoms:

48 (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 90)
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
32 hypospadias rare (5%) HP:0000047
33 flexion contracture rare (5%) HP:0001371
34 hypertriglyceridemia rare (5%) HP:0002155
35 autosomal recessive inheritance HP:0000007
36 cryptorchidism HP:0000028
37 enlarged penis HP:0000040
38 narrow mouth HP:0000160
39 parietal bossing HP:0000242
40 macrocephaly HP:0000256
41 malar flattening HP:0000272
42 hypertelorism HP:0000316
43 triangular face HP:0000325
44 micrognathia HP:0000347
45 low-set ears HP:0000369
46 narrow nasal ridge HP:0000418
47 sparse eyebrow HP:0000535
48 upslanted palpebral fissure HP:0000582
49 blue sclerae HP:0000592
50 entropion HP:0000621
51 nystagmus HP:0000639
52 sparse eyelashes HP:0000653
53 ectropion HP:0000656
54 natal tooth HP:0000695
55 gynecomastia HP:0000771
56 thin ribs HP:0000883
57 hypoplastic ilia HP:0000946
58 thin skin HP:0000963
59 decreased subcutaneous fat HP:0001002
60 hypotrichosis HP:0001006
61 prominent scalp veins HP:0001043
62 large hands HP:0001176
63 intellectual disability HP:0001249
64 global developmental delay HP:0001263
65 delayed closure of the anterior fontanelle HP:0001476
66 failure to thrive HP:0001508
67 intrauterine growth retardation HP:0001511
68 small nail HP:0001792
69 long foot HP:0001833
70 dysphagia HP:0002015
71 truncal ataxia HP:0002078
72 intention tremor HP:0002080
73 recurrent respiratory infections HP:0002205
74 sparse scalp hair HP:0002209
75 malformation of the heart and great vessels HP:0002564
76 short femur HP:0003097
77 sudanophilic leukodystrophy HP:0003269
78 congenital onset HP:0003577
79 short stature HP:0004322
80 widely patent fontanelles and sutures HP:0004492
81 short humerus HP:0005792
82 absence of subcutaneous fat HP:0007485
83 aplasia/hypoplasia of the earlobes HP:0009906
84 long toe HP:0010511
85 feeding difficulties HP:0011968
86 increased testosterone HP:0030088
87 lipoatrophy HP:0100578
88 premature skin wrinkling HP:0100678
89 premature skin wrinkling HP:0100678
90 long fingers HP:0100807

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:

32
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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Articles related to Neonatal Progeroid Syndrome:

(show all 23)
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
Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: new case with normal telomere length in skin fibroblasts. (11568921)
2001
11
A new case of neonatal progeroid syndrome with agenesis of corpus callosum. (10631926)
1999
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
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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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

Sources for Neonatal Progeroid Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet