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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
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cataract
Frequent (30-79%)HP:0000518
Cleft nasal bridge
Frequent (30-79%)HP:0011803
Cleft of palate
Frequent (30-79%)HP:0000175
Eyelid coloboma
Frequent (30-79%)HP:0000625
Eyelid ptosis
Frequent (30-79%)HP:0000508
Finger clinodactyly
Frequent (30-79%)HP:0040019
Hairline point
Frequent (30-79%)HP:0000349
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Increased distance between eyes
Frequent (30-79%)HP:0000316
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
Preauricular skin tags
Frequent (30-79%)HP:0000384
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Retrusion of upper jaw bones
Frequent (30-79%)HP:0000327
Small nasal alae
Frequent (30-79%)HP:0000430
Sparse eyebrow
Frequent (30-79%)HP:0045075
Tessier cleft
Frequent (30-79%)HP:0002006
Thin bone of forehead
Frequent (30-79%)HP:0005466
Thin eyelashes
Frequent (30-79%)HP:0000653
Cranium bifidum occultum
Occasional (5-29%)HP:0004423
Dull intelligence
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.