Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome

disorder

SNOMED 717823001CUI C2745953

Overview

Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome 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.

Big calvaria

Always present (100%)HP:0000256

Brachydactyly

Always present (100%)HP:0001156

Spondylometaphyseal dysplasia

Always present (100%)HP:0002657

Abnormal metaphysis morphology

Very frequent (80-99%)HP:0000944

Cone-shaped epiphyses

Very frequent (80-99%)HP:0010579

Decreased body height

Very frequent (80-99%)HP:0004322

Dentinogenesis imperfecta

Very frequent (80-99%)HP:0000703

Flattened vertebral bodies

Very frequent (80-99%)HP:0000926

Hypoplastic hands

Very frequent (80-99%)HP:0004279

Micromelia

Very frequent (80-99%)HP:0002983

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Coxa valga deformity

Frequent (30-79%)HP:0002673

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Poorly developed lungs

Frequent (30-79%)HP:0002089

Square pelvis bone

Frequent (30-79%)HP:0003278

Bowed long bones

Occasional (5-29%)HP:0006487

Concave bridge of nose

Occasional (5-29%)HP:0005280

Frontal protuberance

Occasional (5-29%)HP:0002007

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Nephronophthisis

Occasional (5-29%)HP:0000090

PDA

Occasional (5-29%)HP:0001643

respiratory infections, recurrent

Occasional (5-29%)HP:0002205

Retrognathia

Occasional (5-29%)HP:0000278

Squint

Occasional (5-29%)HP:0000486

Acetabular angle flat

HP:0003180

Back knee

HP:0002816

Biconvex vertebral bodies

HP:0004625

Cone-shaped epiphyses of the fingers

HP:0010230

coronal cleft of vertebrae

HP:0003417

Decreased transverse dimension of face

HP:0000275

Related Conditions

Metaphyseal chondrodysplasia(parent)

Dentinogenesis imperfecta(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple system malformation syndrome(parent)

Congenital dysplasia of limb(parent)

Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT: 717823001
UMLS CUI: C2745953
Fully Specified Name: Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (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.