Jeune thoracic dystrophy

disorder

SNOMED 75049004CUI C0265275

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.

Abnormality of pelvic girdle bone morphology

Very frequent (80-99%)HP:0002644

Low chest circumference

Very frequent (80-99%)HP:0000774

Micromelia

Very frequent (80-99%)HP:0002983

Rib anomalies

Very frequent (80-99%)HP:0000772

Shorter than typical length between neck and abdomen

Very frequent (80-99%)HP:0010306

Skeletal dysplasia

Very frequent (80-99%)HP:0002652

Abnormal clavicles

Frequent (30-79%)HP:0000889

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Cone-shaped epiphyses

Frequent (30-79%)HP:0010579

Pectus excavatum or carinatum

Frequent (30-79%)HP:0000766

Respiratory function loss

Frequent (30-79%)HP:0002093

Small feet

Frequent (30-79%)HP:0001773

Abnormality of RPE

Occasional (5-29%)HP:0007703

Absent/small lungs

Occasional (5-29%)HP:0006703

Decreased body height

Occasional (5-29%)HP:0004322

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

Kidney disease

Occasional (5-29%)HP:0000112

Liver disease

Occasional (5-29%)HP:0001392

Nephronophthisis

Occasional (5-29%)HP:0000090

Postaxial hand polydactyly

Occasional (5-29%)HP:0001162

Posterior polydactyly of foot

Occasional (5-29%)HP:0001830

Renal failure

Occasional (5-29%)HP:0000083

Syndactyly of feet

Occasional (5-29%)HP:0001770

Brachydactyly

HP:0001156

Cone-shaped epiphyses of the fingers

HP:0010230

Conjugated hyperbilirubinemia

HP:0002908

Early ossification of capital femoral epiphyses

HP:0008797

Hook-shaped clavicle

HP:0000895

Horizontal ribs

HP:0000888

Hypoplastic iliac wing

HP:0002866

Related Conditions

Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy)(child)

Longitudinal deficiency of limb(parent)

Recessive hereditary disorder (autosomal)(parent)

Short rib dysplasia(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 75049004
UMLS CUI: C0265275
Fully Specified Name: Jeune thoracic dystrophy (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.