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Start free with EleplanAutosomal recessive cutis laxa type 2A
ORPHA:357058Disease
Also called ARCL2A
What it is
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- 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%
9Common30–79%
23- Cerebellar malformation
- Delayed cranial suture closure
- Developmental regression
- Dilated fourth ventricle
- Downslanted palpebral fissures
- Enlarged posterior fossa
- Focal impaired awareness seizure
- Generalized-onset seizure
- Hypotonia
- Inguinal hernia
- Intrauterine growth retardation
- Pachygyria
- Pes planus
- Postnatal growth retardation
- Primary microcephaly
- Prominent nasal bridge
- Prominent nasolabial fold
- Secondary microcephaly
- Severe global developmental delay
- Strabismus
- Thick cerebral cortex
- Thick hair
- Wide anterior fontanel
Sometimes5–29%
16- Abnormal bleeding
- Abnormality of the cerebellar vermis
- Ataxia
- Athetosis
- Blue sclerae
- Cerebellar vermis hypoplasia
- Congenital hip dislocation
- Dandy-Walker malformation
and 8 more in this range
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 reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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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