Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome

disorder

SNOMED 1177166006CUI C5567892

Overview

Frontonasal dysplasia, bifid nose, upper limb anomalies 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 hands

Frequent (30-79%)HP:0001155

Abnormality of the arm

Frequent (30-79%)HP:0002817

Almond shaped eyes

Frequent (30-79%)HP:0007874

Anomaly of the nasal bones

Frequent (30-79%)HP:0010939

Broad flat nasal bridge

Frequent (30-79%)HP:0000431

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased nasal width

Frequent (30-79%)HP:0000445

Notched tip of nose

Frequent (30-79%)HP:0000456

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Small for gestational age infant

Frequent (30-79%)HP:0001511

Small nasal alae

Frequent (30-79%)HP:0000430

Unbalanced face

Frequent (30-79%)HP:0000324

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Atria septal defect

Occasional (5-29%)HP:0001631

Choanal atresia

Occasional (5-29%)HP:0000453

Clinodactyly of the 3rd toe

Occasional (5-29%)HP:0008115

Dropped arches

Occasional (5-29%)HP:0001763

Frontoethmoidal encephalocele

Occasional (5-29%)HP:0007330

Oligodactyly

Occasional (5-29%)HP:0012165

Related Conditions

Genetic disease(parent)

Frontonasal dysplasia sequence(parent)

Quick Facts

SNOMED CT: 1177166006
UMLS CUI: C5567892
Fully Specified Name: Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.