Focal facial dermal dysplasia 2 Brauer Setleis type

disorder

SNOMED 789159005CUI C3554245

Overview

Focal facial dermal dysplasia 2 Brauer Setleis type 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.

Bitemporal forceps marks

Very frequent (80-99%)HP:0011336

Curved linear dimple below the lower lip

Very frequent (80-99%)HP:0002055

Distichiasis

Very frequent (80-99%)HP:0009743

Introversion of eyelashes

Very frequent (80-99%)HP:0001128

Low-set ears

Very frequent (80-99%)HP:0000369

Sparse eyebrow

Very frequent (80-99%)HP:0045075

Everted lower eyelids

Frequent (30-79%)HP:0007651

Generalized hypertrichosis

Frequent (30-79%)HP:0004554

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Small earlobes

Frequent (30-79%)HP:0000385

Absent ear lobes

Occasional (5-29%)HP:0000387

Dysplastic ears

Occasional (5-29%)HP:0000377

Lop ear

Occasional (5-29%)HP:0000394

Related Conditions

Hereditary disorder of the integument(parent)

Focal facial dermal dysplasia(parent)

Developmental hereditary disorder(parent)

Dominant autosomal hereditary disorder, incomplete penetrance(parent)

Quick Facts

SNOMED CT: 789159005
UMLS CUI: C3554245
Fully Specified Name: Focal facial dermal dysplasia type II (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.