Frontonasal dysplasia type 3

disorder

SNOMED 773628009CUI C4751077

Overview

Frontonasal dysplasia type 3 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.

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Aplasia/Hypoplasia of the frontal sinuses

Frequent (30-79%)HP:0009119

Brachydactyly

Frequent (30-79%)HP:0001156

Cleft nasal bridge

Frequent (30-79%)HP:0011803

Cleft of palate

Frequent (30-79%)HP:0000175

Curvature of finger

Frequent (30-79%)HP:0040019

Eyelid coloboma

Frequent (30-79%)HP:0000625

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hairline point

Frequent (30-79%)HP:0000349

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Hypotrophic frontal bones

Frequent (30-79%)HP:0005466

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Lens opacities

Frequent (30-79%)HP:0000518

Nanophthalmos

Frequent (30-79%)HP:0000568

Palpebronasal fold

Frequent (30-79%)HP:0000286

Pectoral muscle hypoplasia/aplasia

Frequent (30-79%)HP:0005258

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Skin tag on the posterior cheek

Frequent (30-79%)HP:0000384

Small nasal alae

Frequent (30-79%)HP:0000430

Small upper jaw

Frequent (30-79%)HP:0000327

Sparse eyebrow

Frequent (30-79%)HP:0045075

Tessier cleft

Frequent (30-79%)HP:0002006

Thin eyelashes

Frequent (30-79%)HP:0000653

Cranium bifidum occultum

Occasional (5-29%)HP:0004423

Mental-retardation

Occasional (5-29%)HP:0001249

Pericallosal lipoma

Occasional (5-29%)HP:0006931

Tetrology of fallot

Occasional (5-29%)HP:0001636

Related Conditions

Hereditary disorder of the visual system(parent)

Cleft palate(parent)

Recessive hereditary disorder (autosomal)(parent)

Microphthalmos(parent)

Hereditary disorder of musculoskeletal system(parent)

Frontonasal dysplasia sequence(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 773628009
UMLS CUI: C4751077
Fully Specified Name: Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.