Microphthalmia with linear skin defect syndrome

disorder

SNOMED 721879006CUI C0796070

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.

Asymmetric, linear skin defects

Always present (100%)HP:0007398

Abnormal skin colour

Very frequent (80-99%)HP:0001000

Absence of eyeballs

Very frequent (80-99%)HP:0000528

Aplasia/Hypoplasia of the skin

Very frequent (80-99%)HP:0008065

Diaphragmatic hernia

Very frequent (80-99%)HP:0000776

Erythema

Very frequent (80-99%)HP:0010783

Hardening of skin and connective tissue

Very frequent (80-99%)HP:0000647

Hypotrophic midface

Very frequent (80-99%)HP:0011800

Melanoderma

Very frequent (80-99%)HP:0000953

Nanophthalmos

Very frequent (80-99%)HP:0000568

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Skin degeneration

Very frequent (80-99%)HP:0004334

Abnormal heart rate

Frequent (30-79%)HP:0011675

Abnormal nasolacrimal system morphology

Frequent (30-79%)HP:0000614

Abnormal vitreous humor morphology

Frequent (30-79%)HP:0004327

Abnormality of the eyelashes

Frequent (30-79%)HP:0000499

Abnormality of the eyelids

Frequent (30-79%)HP:0000492

Agnathia

Frequent (30-79%)HP:0009939

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Decreased body height

Frequent (30-79%)HP:0004322

Distortion of face

Frequent (30-79%)HP:0001999

Ear anomaly

Frequent (30-79%)HP:0000598

Heart septal defect

Frequent (30-79%)HP:0001671

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Increased nasal width

Frequent (30-79%)HP:0000445

Retinal pigmentary anomaly

Frequent (30-79%)HP:0007703

Retrognathia

Frequent (30-79%)HP:0000278

Short stature, severe

Frequent (30-79%)HP:0003510

Related Conditions

Microphthalmos(parent)

Congenital anomaly of skin(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

X-linked dominant hereditary disease(parent)

Quick Facts

SNOMED CT: 721879006
UMLS CUI: C0796070
Fully Specified Name: Microphthalmia with linear skin 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.