Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

disorder

SNOMED 734017008CUI C4518334

Overview

Ectodermal dysplasia, intellectual disability, central nervous system malformation 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 immune system physiology

Very frequent (80-99%)HP:0010978

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Absence of eyebrow

Very frequent (80-99%)HP:0100840

Cerebellar hypoplasia/atrophy

Very frequent (80-99%)HP:0007360

Concave bridge of nose

Very frequent (80-99%)HP:0005280

Decreased sweating

Very frequent (80-99%)HP:0000966

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dystrophic tooth enamel

Very frequent (80-99%)HP:0000682

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Fine hair

Very frequent (80-99%)HP:0002213

Frontal protuberance

Very frequent (80-99%)HP:0002007

Gait disturbance

Very frequent (80-99%)HP:0001288

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased size of skull

Very frequent (80-99%)HP:0000256

Low-set ears

Very frequent (80-99%)HP:0000369

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nonsyndromal hydrocephalus

Very frequent (80-99%)HP:0000238

Retrognathia

Very frequent (80-99%)HP:0000278

Small malar bone

Very frequent (80-99%)HP:0010669

Thin skin

Very frequent (80-99%)HP:0000963

Tooth hypoplasia

Very frequent (80-99%)HP:0000691

Xerosis

Very frequent (80-99%)HP:0000958

Abnormal fibula morphology

Occasional (5-29%)HP:0002991

Abnormality of the eyelids

Occasional (5-29%)HP:0000492

Accessory nipples

Occasional (5-29%)HP:0002558

Aplastic/hypoplastic toenails

Occasional (5-29%)HP:0010624

Cleft of palate

Occasional (5-29%)HP:0000175

Related Conditions

Ectodermal dysplasia(parent)

Multiple system malformation syndrome(parent)

Congenital anomaly of central nervous system(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 734017008
UMLS CUI: C4518334
Fully Specified Name: Ectodermal dysplasia, intellectual disability, central nervous system malformation 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.