CHANDS - Curly hair, ankyloblepharon, nail dysplasia syndrome

disorder

SNOMED 239037001CUI C0406733

Overview

CHANDS - Curly hair, ankyloblepharon, nail dysplasia 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.

Adhesion of eyelids

Very frequent (80-99%)HP:0009755

Curly hair

Very frequent (80-99%)HP:0002212

Nail dysplasia

Very frequent (80-99%)HP:0002164

Abnormality of lingual frenum

Frequent (30-79%)HP:0000190

Absence of upper front tooth

Frequent (30-79%)HP:0200160

Agenesis of permanent teeth

Frequent (30-79%)HP:0006349

Ataxia

Frequent (30-79%)HP:0001251

Cleft of palate

Frequent (30-79%)HP:0000175

Commissural labial pits

Frequent (30-79%)HP:0002710

Concave bridge of nose

Frequent (30-79%)HP:0005280

Dry skin

Frequent (30-79%)HP:0000958

Hypohidrosis

Frequent (30-79%)HP:0000966

Imperforate hymen

Frequent (30-79%)HP:0030011

Increased distance between eyes

Frequent (30-79%)HP:0000316

Pulmonary atelectasis

Frequent (30-79%)HP:0100750

Snake tongue

Frequent (30-79%)HP:0010297

Uroureter

Frequent (30-79%)HP:0000072

Short fifth metatarsal

Occasional (5-29%)HP:0004704

Related Conditions

Ectodermal dysplasia with hair-nail defect(parent)

Quick Facts

SNOMED CT: 239037001
UMLS CUI: C0406733
Fully Specified Name: Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.