Cutis laxa, recessive, type I

disorder

SNOMED 254222002CUI C0268351

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Hanging skin

Always present (100%)HP:0000973

Fragmented elastic fibers in the dermis

Very frequent (80-99%)HP:0025167

Hooding of eyelids

Very frequent (80-99%)HP:0010750

Lack of skin elasticity

Very frequent (80-99%)HP:0100679

Loose redundant skin

Very frequent (80-99%)HP:0001582

Pulmonary emphysema

Very frequent (80-99%)HP:0002097

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of the cheek

Frequent (30-79%)HP:0004426

Abnormality of the face

Frequent (30-79%)HP:0000271

Abnormality of the thoracic cavity

Frequent (30-79%)HP:0045027

Arterial abnormalities

Frequent (30-79%)HP:0011004

Cardiac insufficiency

Frequent (30-79%)HP:0001635

Collapsed lung

Frequent (30-79%)HP:0002107

Funny looking face

Frequent (30-79%)HP:0001999

Hernia

Frequent (30-79%)HP:0100790

Inguinal hernia

Frequent (30-79%)HP:0000023

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Joint subluxation

Frequent (30-79%)HP:0032153

No development of motor milestones

Frequent (30-79%)HP:0001270

Pathologic fracture

Frequent (30-79%)HP:0002756

Peripheral pulmonary artery stenosis

Frequent (30-79%)HP:0004969

Respiratory insufficiency

Frequent (30-79%)HP:0002093

Small for gestational age infant

Frequent (30-79%)HP:0001511

Abnormal cardiac ventricular function

Occasional (5-29%)HP:0030872

Abnormality of the skull bones

Occasional (5-29%)HP:0000929

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Infantile hypertrophic pyloric stenosis

Occasional (5-29%)HP:0002021

Multiple bladder diverticula

Occasional (5-29%)HP:0012619

Pneumonia, recurrent

Occasional (5-29%)HP:0006532

Pyelonephritis

Occasional (5-29%)HP:0012330

Related Conditions

Cutis laxa, autosomal recessive(parent)

Quick Facts

SNOMED CT: 254222002
UMLS CUI: C0268351
Fully Specified Name: Cutis laxa, recessive, type I (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.