MCID: CTS042
MIFTS: 19

Cutis Laxa, Neonatal, with Marfanoid Phenotype

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards integrated aliases for Cutis Laxa, Neonatal, with Marfanoid Phenotype:

Name: Cutis Laxa, Neonatal, with Marfanoid Phenotype 56 29
Cutis Laxa-Marfanoid Syndrome 56 58 71

Characteristics:

Orphanet epidemiological data:

58
cutis laxa-marfanoid syndrome
Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cutis laxa, neonatal, with marfanoid phenotype:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 614100
UMLS via Orphanet 72 C0432335
Orphanet 58 ORPHA171719
MedGen 41 C0432335
UMLS 71 C0432335

Summaries for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards based summary : Cutis Laxa, Neonatal, with Marfanoid Phenotype, is also known as cutis laxa-marfanoid syndrome. Affiliated tissues include heart, bone and skin, and related phenotypes are flexion contracture and emphysema

More information from OMIM: 614100

Related Diseases for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Symptoms & Phenotypes for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Human phenotypes related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
2 emphysema 58 31 hallmark (90%) Very frequent (99-80%) HP:0002097
3 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
4 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
5 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
6 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
7 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
8 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
9 abnormal heart morphology 31 HP:0001627
10 cutis laxa 31 HP:0000973

Symptoms via clinical synopsis from OMIM:

56
Respiratory Lung:
emphysema

Skeletal Limbs:
arachnodactyly
mild elbow, hip, and knee contractures

Cardiovascular Heart:
congenital heart defect

Laboratory Abnormalities:
deficiency of laminin in basement membranes

Skeletal Pelvis:
hip dislocation

Skin Nails Hair Skin:
cutis laxa

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM:

614100

Drugs & Therapeutics for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Search Clinical Trials , NIH Clinical Center for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Genetic Tests for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Genetic tests related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

# Genetic test Affiliating Genes
1 Cutis Laxa, Neonatal, with Marfanoid Phenotype 29

Anatomical Context for Cutis Laxa, Neonatal, with Marfanoid Phenotype

MalaCards organs/tissues related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

40
Heart, Bone, Skin

Publications for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Articles related to Cutis Laxa, Neonatal, with Marfanoid Phenotype:

# Title Authors PMID Year
1
Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. 56
1864606 1991
2
Severe perinatal Marfan syndrome. 56
2740180 1989
3
Pulmonary emphysema in a neonate with Marfan syndrome. 56
3774401 1986
4
Marfan's syndrome presenting as an intrapartum death. 56
3840972 1985
5
Early cardiac manifestations of Marfan's syndrome in the newborn. 56
7304406 1981
6
Cardiac studies of infant twins with Marfan's syndrome. 56
5156260 1971
7
[Marfan's disease in a newborn infant with polyvisceral lesions. Anatomo-clinic study]. 56
4237829 1968

Variations for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Expression for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Search GEO for disease gene expression data for Cutis Laxa, Neonatal, with Marfanoid Phenotype.

Pathways for Cutis Laxa, Neonatal, with Marfanoid Phenotype

GO Terms for Cutis Laxa, Neonatal, with Marfanoid Phenotype

Sources for Cutis Laxa, Neonatal, with Marfanoid Phenotype

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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