Ehlers-Danlos syndrome, hydroxylysine-deficient

disorder

SNOMED 25606004CUI C0268342

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.

Abnormally indented hip sockets

Always present (100%)HP:0003179

Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

Always present (100%)HP:0034006

Delayed ability to walk

Always present (100%)HP:0031936

Eyelid ptosis

Always present (100%)HP:0000508

Flattened vertebral bodies

Always present (100%)HP:0000926

Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts

Always present (100%)HP:6000826

Slender ribs

Always present (100%)HP:0000883

Soft skin

Always present (100%)HP:0000977

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Central hypotonia

Very frequent (80-99%)HP:0001252

Fragile skin

Very frequent (80-99%)HP:0001030

Joint instability

Very frequent (80-99%)HP:0001382

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Osteopenia

Very frequent (80-99%)HP:0000938

Osteoporosis

Very frequent (80-99%)HP:0000939

Thoracic kyphoscoliosis

Very frequent (80-99%)HP:0005659

Accelerated linear growth

Frequent (30-79%)HP:0000098

Atypical scarring

Frequent (30-79%)HP:0000987

Bruising susceptibility

Frequent (30-79%)HP:0000978

Congenital kyphoscoliosis

Frequent (30-79%)HP:0008453

Decreased corneal diameter

Frequent (30-79%)HP:0000482

Delayed gross motor development

Frequent (30-79%)HP:0002194

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Dolichostenomelia

Frequent (30-79%)HP:0001519

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Fetal foot inversion

Frequent (30-79%)HP:0001762

Generalized joint laxity

Frequent (30-79%)HP:0002761

Hypotonia, in neonatal onset

Frequent (30-79%)HP:0001319

Joint dislocation

Frequent (30-79%)HP:0001373

Joint subluxation

Frequent (30-79%)HP:0032153

Related Conditions

Ehlers-Danlos syndrome kyphoscoliotic type(parent)

Quick Facts

SNOMED CT: 25606004
UMLS CUI: C0268342
Fully Specified Name: Ehlers-Danlos syndrome, hydroxylysine-deficient (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.