Frontofacionasal dysplasia syndrome

disorder

SNOMED 716022002CUI C2931720

Overview

Frontofacionasal dysplasia 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.

Blepharophimosis

Very frequent (80-99%)HP:0000581

Decreased body height

Very frequent (80-99%)HP:0004322

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Non-midline cleft of the upper lip

Very frequent (80-99%)HP:0100335

Retruded nasal dorsum

Very frequent (80-99%)HP:0000457

Tessier cleft

Very frequent (80-99%)HP:0002006

Upper eyelid coloboma

Very frequent (80-99%)HP:0000636

Absent inner eyelashes

Frequent (30-79%)HP:0007708

Bifid skull

Frequent (30-79%)HP:0002084

Cleft of palate

Frequent (30-79%)HP:0000175

Epibulbar dermoid

Frequent (30-79%)HP:0001140

Iris coloboma

Frequent (30-79%)HP:0000612

Notched tip of nose

Frequent (30-79%)HP:0000456

Skin tag on the posterior cheek

Frequent (30-79%)HP:0000384

Sparse to absent eyebrows

Frequent (30-79%)HP:0100840

Speckled iris

Frequent (30-79%)HP:0001088

Underdeveloped olfactory tract

Frequent (30-79%)HP:0007036

Wide cranium shape

Frequent (30-79%)HP:0000248

Choanal atresia

Occasional (5-29%)HP:0000453

Cornea of eye less than 10mm in diameter

Occasional (5-29%)HP:0000482

Decreased size of eyeball

Occasional (5-29%)HP:0000568

Dimpled tip of nose

Occasional (5-29%)HP:0004132

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Lens opacities

Occasional (5-29%)HP:0000518

Multiple, subcutaneous nodules

Occasional (5-29%)HP:0001482

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysostosis of bone of skull(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 716022002
UMLS CUI: C2931720
Fully Specified Name: Frontofacionasal dysplasia 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.