Global developmental delay, osteopenia, ectodermal defect syndrome

disorder

SNOMED 717813005CUI C4303570

Overview

Global developmental delay, osteopenia, ectodermal defect 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.

Abnormal temper tantrums

Very frequent (80-99%)HP:0025160

Abnormality of dermal melanosomes

Very frequent (80-99%)HP:0011125

Abnormality of hair curl pattern

Very frequent (80-99%)HP:0010719

Abnormality of keratinization

Very frequent (80-99%)HP:0011368

Aggression

Very frequent (80-99%)HP:0000718

Behavioural/Psychiatric abnormality

Very frequent (80-99%)HP:0000708

Childhood attention deficit/hyperactivity disorder

Very frequent (80-99%)HP:0007018

Depigmentation/hyperpigmentation of skin

Very frequent (80-99%)HP:0007483

Diffusely thickened skin

Very frequent (80-99%)HP:0001072

Hypoplastic sweat glands

Very frequent (80-99%)HP:0007387

Impulsivity

Very frequent (80-99%)HP:0100710

Joint instability

Very frequent (80-99%)HP:0001382

Low urine calcium levels

Very frequent (80-99%)HP:0003127

Orthokeratotic hyperkeratosis

Very frequent (80-99%)HP:0025080

Osteopenia

Very frequent (80-99%)HP:0000938

Poor attention span

Very frequent (80-99%)HP:0000736

Delayed language development

Frequent (30-79%)HP:0000750

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Bilateral crossbite

Occasional (5-29%)HP:0000689

Broad flat nasal bridge

Occasional (5-29%)HP:0000431

Clinodactyly of the 2nd finger

Occasional (5-29%)HP:0040022

Curvature of ring finger

Occasional (5-29%)HP:0040025

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Dilated Virchow-Robin spaces

Occasional (5-29%)HP:0012520

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Increased length of philtrum

Occasional (5-29%)HP:0000343

Increased width of the forehead

Occasional (5-29%)HP:0000337

Localized dysplasia of tooth enamel

Occasional (5-29%)HP:0011074

Low urine phosphate levels

Occasional (5-29%)HP:0012365

Mitral regurgitation

Occasional (5-29%)HP:0001653

Related Conditions

Global developmental delay(parent)

Congenital ectodermal defect(parent)

Osteopenia(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 717813005
UMLS CUI: C4303570
Fully Specified Name: Global developmental delay, osteopenia, ectodermal defect 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.