Contracture with ectodermal dysplasia and orofacial cleft syndrome

disorder

SNOMED 720746006CUI C2931745

Overview

Contracture with ectodermal dysplasia and orofacial cleft 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.

Abnormality of tear production

Very frequent (80-99%)HP:0000632

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Cleft of palate

Very frequent (80-99%)HP:0000175

Cognitive delay

Very frequent (80-99%)HP:0001263

Decreased sweating

Very frequent (80-99%)HP:0000966

Intellectual impairment

Very frequent (80-99%)HP:0100543

Limitation of joint mobility

Very frequent (80-99%)HP:0001376

Non-midline cleft of the upper lip

Very frequent (80-99%)HP:0100335

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Ectodermal dysplasia with hair-tooth defects(parent)

Hereditary disorder of the integument(parent)

Orofacial cleft(parent)

Inherited arthrogryposis(parent)

Congenital abnormality of skull and face bones(parent)

Hereditary disorder of tooth(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 720746006
UMLS CUI: C2931745
Fully Specified Name: Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.