Cutis laxa - Marfanoid syndrome

MedGen UID:: 96594
•Concept ID:: C0432335
•: Disease or Syndrome

Synonyms:	Cutis laxa, neonatal, with marfanoid phenotype; CUTIS LAXA-MARFANOID SYNDROME
SNOMED CT:	Neonatal cutis laxa with marfanoid phenotype (254221009)

Monarch Initiative:	MONDO:0013574
OMIM®:	614100
Orphanet:	ORPHA171719

Definition

A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991. [from ORDO]

Clinical features

From HPO

Arachnodactyly

MedGen UID:: 2047
•Concept ID:: C0003706
•: Congenital Abnormality

Abnormally long and slender fingers ("spider fingers").

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Abnormal heart morphology

MedGen UID:: 6748
•Concept ID:: C0018798
•: Congenital Abnormality

Any structural anomaly of the heart.

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Abnormal cardiovascular system morphology

MedGen UID:: 892473
•Concept ID:: C4049796
•: Congenital Abnormality

Any structural anomaly of the heart and blood vessels.

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Hip dislocation

MedGen UID:: 42455
•Concept ID:: C0019554
•: Injury or Poisoning

Displacement of the femur from its normal location in the hip joint.

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Congenital diaphragmatic hernia

MedGen UID:: 68625
•Concept ID:: C0235833
•: Congenital Abnormality

The presence of a hernia of the diaphragm present at birth.

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Emphysema

MedGen UID:: 18764
•Concept ID:: C0034067
•: Disease or Syndrome

A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.

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Cutis laxa