Macrosomia, microphthalmia, cleft palate syndrome

disorder

SNOMED 773282001CUI C4721892

Overview

Macrosomia, microphthalmia, cleft palate 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 cranial suture/fontanelle morphology

Very frequent (80-99%)HP:0000235

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Enlarged liver

Very frequent (80-99%)HP:0002240

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Large for gestational age

Very frequent (80-99%)HP:0001520

Nanophthalmos

Very frequent (80-99%)HP:0000568

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Abnormality of cranium

Frequent (30-79%)HP:0002683

Central cleft palate

Frequent (30-79%)HP:0009099

Respiratory function loss

Frequent (30-79%)HP:0002093

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Microphthalmos(parent)

Multiple malformation syndrome with early overgrowth(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 773282001
UMLS CUI: C4721892
Fully Specified Name: Macrosomia, microphthalmia, cleft palate syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.