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Start free with EleplanAutosomal recessive cutis laxa type 1
ORPHA:90349Disease
Also called ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement · Autosomal recessive cutis laxa, pulmonary emphysema type
What it is
A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5Common30–79%
17- Abnormal cardiovascular system morphology
- Abnormal facial shape
- Abnormality of the cheek
- Abnormality of the face
- Abnormality of the thoracic cavity
- Abnormal systemic arterial morphology
- Congestive heart failure
- Hernia
- Inguinal hernia
- Intrauterine growth retardation
- Joint hypermobility
- Joint subluxation
- Motor delay
- Pathologic fracture
- Peripheral pulmonary artery stenosis
- Pneumothorax
- Respiratory insufficiency
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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