autosomal recessive cutis laxa type IIC
ORPHA: 357074
Overview
autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal recessive cutis laxa type IIC, sourced from HPO and Orphanet clinical annotations.
Delayed closure of the anterior fontanelleHigh palateProgressive microcephalyMalar flatteningHypertelorismSmooth philtrumLong philtrumLow-set earsBroad nasal tipAnteverted naresDownslanted palpebral fissuresCarious teethDementiaDelayed speech and language developmentCutis laxaGlobal developmental delayMotor delayFailure to thriveIntrauterine growth retardationRedundant skinProfound intellectual disabilityCoarse hairPsychomotor deteriorationPoor speechGeneralized joint hypermobilityAbnormal isoelectric focusing of serum transferrinShort noseDecreased muscle massShort statureProminent nasolabial foldRedundant neck skinThick cerebral cortexExcessive wrinkled skinProminent veins on trunkAbnormal subcutaneous fat tissue distributionSparse hairPostnatal growth retardationFloppy infantLipodystrophyHigh myopiaFeeding difficultiesFragmented elastic fibers in the dermisThick hairInguinal herniaStrabismusSeizureSpasticityPachygyriaDandy-Walker malformationCerebellar hypoplasiaLissencephalyCongenital hip dislocationPolymicrogyriaAbnormal circulating apolipoprotein concentrationSub-retinal pigment epithelium haemorrhageAbnormality of the intrinsic pathway
Classification & Codes
Orphanet Code
ORPHA:357074autosomal recessive cutis laxa type IIC
| Orphanet | ORPHA:357074 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO