CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome

disorder

SNOMED 720601000CUI C1864852

Overview

CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) 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.

Accelerated linear growth

Always present (100%)HP:0000098

Arachnodactyly

Always present (100%)HP:0001166

High arched palate

Always present (100%)HP:0000218

Abnormality of lower limb joint

Very frequent (80-99%)HP:0100491

Camptodactyly

Very frequent (80-99%)HP:0012385

Deafness

Very frequent (80-99%)HP:0000365

Mental-retardation

Very frequent (80-99%)HP:0001249

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Scoliosis

Very frequent (80-99%)HP:0002650

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Mental and motor retardation

Frequent (30-79%)HP:0001263

Camptodactyly of feet

HP:0001836

Decreased size of cranium

HP:0000252

Increased vertebral height

HP:0004570

Osteochondroma

HP:0030431

Pectus excavatum

HP:0000767

Wide femoral metaphysis

HP:0006417

Related Conditions

Autosomal hereditary disorder(parent)

Camptodactyly(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Dysostosis(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital anomaly of finger(parent)

Developmental hereditary disorder(parent)

Congenital deformity of hand(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720601000
UMLS CUI: C1864852
Fully Specified Name: Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.