Congenital scoliosis with unilateral unsegmented bar

disorder

SNOMED 702351004CUI C1848934

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.

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Congenitally fused vertebrae

Frequent (30-79%)HP:0002948

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Fused wrist bones

Frequent (30-79%)HP:0009702

Hearing impairment

Frequent (30-79%)HP:0000365

Increased lumbar lordosis

Frequent (30-79%)HP:0002938

Narrow intervertebral disc spaces

Frequent (30-79%)HP:0002945

Pectus carinatum

Frequent (30-79%)HP:0000768

Short stature, severe disproportionate

Frequent (30-79%)HP:0003498

Tarsal bone synostosis

Frequent (30-79%)HP:0008368

Thin dental enamel

Frequent (30-79%)HP:0006297

Cleft of palate

Occasional (5-29%)HP:0000175

Delayed maturation of wrist bone

Occasional (5-29%)HP:0001216

Dropped arches

Occasional (5-29%)HP:0001763

Frontal protuberance

Occasional (5-29%)HP:0002007

Retarded ossification

Occasional (5-29%)HP:0002750

Short neck

Occasional (5-29%)HP:0000470

Retinal pigmentary anomaly

Very rare (1-4%)HP:0007703

Abnormal development of the ends of long bones in arms and legs

HP:0002656

Abnormal spinal segmentation

HP:0003422

Abnormality of pelvic girdle bone morphology

HP:0002644

Block vertebrae

HP:0003305

Brachydactyly

HP:0001156

Broad, upturned nose

HP:0000455

C2-C3 subluxation

HP:0008456

Coxa vara

HP:0002812

Cystic kidney disease

HP:0000107

Fusion of hamate and capitate

HP:0001241

Hearing loss, mixed

HP:0000410

Humeral bowing

HP:0003865

Related Conditions

Osteochondrodysplasia syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 702351004
UMLS CUI: C1848934
Fully Specified Name: Spondylocarpotarsal synostosis 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.