AEG - anophthalmia-esophageal-genital syndrome

disorder

SNOMED 698851003CUI C1859773

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent optic nerve

Always present (100%)HP:0012521

Bilateral nerve deafness

Always present (100%)HP:0008619

Abnormal connection between trachea and esophagus

Very frequent (80-99%)HP:0002575

Abnormally small eyeball

Very frequent (80-99%)HP:0000568

Absence of eyeballs

Very frequent (80-99%)HP:0000528

Esophageal atresia

Very frequent (80-99%)HP:0002032

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Cryptorchidism

Frequent (30-79%)HP:0000028

Deafness

Frequent (30-79%)HP:0000365

Visual loss

Frequent (30-79%)HP:0000572

11 pairs of ribs

Occasional (5-29%)HP:0000878

Decreased body height

Occasional (5-29%)HP:0004322

Growth failure

Occasional (5-29%)HP:0001510

Hardening of skin and connective tissue

Occasional (5-29%)HP:0000647

Hemivertebra

Occasional (5-29%)HP:0002937

Hypoplasia of penis

Occasional (5-29%)HP:0008736

Hypospadias

Occasional (5-29%)HP:0000047

Iris coloboma

Occasional (5-29%)HP:0000612

Lens opacities

Occasional (5-29%)HP:0000518

Mental-retardation

Occasional (5-29%)HP:0001249

Multiple vertebral anomalies

Occasional (5-29%)HP:0003468

Nonsyndromal hydrocephalus

Occasional (5-29%)HP:0000238

Notched pupil

Occasional (5-29%)HP:0000589

PDA

Occasional (5-29%)HP:0001643

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Single brain ventricle

Occasional (5-29%)HP:0001360

VSD

Occasional (5-29%)HP:0001629

Anterior pituitary hypoplasia

HP:0010627

Central hypotonia

HP:0001252

Congenitally fused vertebrae

HP:0002948

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Congenital anomaly of eye(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 698851003
UMLS CUI: C1859773
Fully Specified Name: SOX2 anophthalmia 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.