ARCL2A - autosomal recessive cutis laxa type 2A

disorder

SNOMED 784381008CUI C0268355

Overview

ARCL2A - autosomal recessive cutis laxa type 2A is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal cutaneous elastic fiber morphology

Very frequent (80-99%)HP:0025082

Abnormal isoelectric focusing of transferrin

Very frequent (80-99%)HP:0003160

Cognitive delay

Very frequent (80-99%)HP:0001263

Excessive wrinkled skin

Very frequent (80-99%)HP:0007392

Front fontanelle stays open

Very frequent (80-99%)HP:0004474

Loose-jointedness

Very frequent (80-99%)HP:0001382

Mental-retardation

Very frequent (80-99%)HP:0001249

Progeroid facial appearance

Very frequent (80-99%)HP:0005328

Severe myopia

Very frequent (80-99%)HP:0011003

Cerebellar abnormality

Frequent (30-79%)HP:0001317

Cerebral pachygyria

Frequent (30-79%)HP:0001302

Complex partial seizures

Frequent (30-79%)HP:0002384

Deep nasolabial crease

Frequent (30-79%)HP:0005272

Delayed closure of the fontanelles

Frequent (30-79%)HP:0000270

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dropped arches

Frequent (30-79%)HP:0001763

Enlarged posterior fossa

Frequent (30-79%)HP:0005445

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Growth delay as children

Frequent (30-79%)HP:0008897

Head circumference small for gestational age

Frequent (30-79%)HP:0011451

Inguinal hernia

Frequent (30-79%)HP:0000023

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Muscular hypotonia

Frequent (30-79%)HP:0001252

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Prominent nasal root

Frequent (30-79%)HP:0000426

Psychomotor regression, progressive

Frequent (30-79%)HP:0002376

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Squint

Frequent (30-79%)HP:0000486

Thick cerebral cortex

Frequent (30-79%)HP:0006891

Related Conditions

Metabolic bone disease(parent)

Dysplasia with decreased bone density(parent)

Hereditary disorder of musculoskeletal system(parent)

Musculoskeletal and connective tissue disorder(parent)

Cutis laxa, recessive, type II(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 784381008
UMLS CUI: C0268355
Fully Specified Name: Autosomal recessive cutis laxa type 2A (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.