Cutis Laxa, Neonatal, with Marfanoid Phenotype disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

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

SNOMED-CT via HPO ⁶⁸ 13213009 157265008 17190001 more

UMLS ⁷¹ C0432335

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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

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Related Diseases for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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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

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

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

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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

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Anatomical Context for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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

⁴⁰

Heart, Bone, Skin

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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	Bonneau D...Larregue M	1864606	1991
2	Severe perinatal Marfan syndrome. ⁵⁶	Gross DM...Duvic M	2740180	1989
3	Pulmonary emphysema in a neonate with Marfan syndrome. ⁵⁶	Day DL...Burke BA	3774401	1986
4	Marfan's syndrome presenting as an intrapartum death. ⁵⁶	Buchanan R...Wyatt GP	3840972	1985
5	Early cardiac manifestations of Marfan's syndrome in the newborn. ⁵⁶	Lababidi Z...Monzon C	7304406	1981
6	Cardiac studies of infant twins with Marfan's syndrome. ⁵⁶	Hohn AR...Webb HM	5156260	1971
7	[Marfan's disease in a newborn infant with polyvisceral lesions. Anatomo-clinic study]. ⁵⁶	Neimann N...Fall M	4237829	1968

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Genes for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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Variations for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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Expression for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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

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Pathways for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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GO Terms for Cutis Laxa, Neonatal, with Marfanoid Phenotype

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