Cutis Laxa, Autosomal Recessive, Type Iia (ARCL2A)

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OMIM®: ⁵⁷ Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (219200) (Updated 08-Dec-2022)

MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to cutis laxa, autosomal recessive, type ia and ehlers-danlos syndrome, and has symptoms including seizures An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iia is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways are Ion channel transport and Insulin receptor recycling. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and seizure

GARD: ¹⁹ 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.

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.

Disease Ontology: ¹¹ An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

Wikipedia: ⁷⁵ De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Cutis Laxa, Autosomal Recessive, Type Iia