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ALX3-related frontonasal dysplasia

disorder
SNOMED 1230021007CUI C5574965

Overview

ALX3-related frontonasal dysplasia 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.

Increased width of bridge of nose
Always present (100%)HP:0000431
Basal encephalocele
Frequent (30-79%)HP:0011817
Bifid skull
Frequent (30-79%)HP:0002084
Bilobed tongue
Frequent (30-79%)HP:0010297
Brachydactyly
Frequent (30-79%)HP:0001156
Cataract
Frequent (30-79%)HP:0000518
Cleft of palate
Frequent (30-79%)HP:0000175
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Congenital conductive hearing loss
Frequent (30-79%)HP:0008591
Cranium bifidum occultum
Frequent (30-79%)HP:0004423
Curvature of finger
Frequent (30-79%)HP:0040019
Decreased size of eyeball
Frequent (30-79%)HP:0000568
Decreased volume of frontal sinuses
Frequent (30-79%)HP:0002738
Dermoid cyst
Frequent (30-79%)HP:0025247
Eyelid ptosis
Frequent (30-79%)HP:0000508
Hairline point
Frequent (30-79%)HP:0000349
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Iris coloboma
Frequent (30-79%)HP:0000612
Midline nasal groove
Frequent (30-79%)HP:0004112
Palpebronasal fold
Frequent (30-79%)HP:0000286
Pericallosal lipoma
Frequent (30-79%)HP:0006931
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
Squint
Frequent (30-79%)HP:0000486
Diabetes insipidus
Occasional (5-29%)HP:0000873
Hypopituitarism
Occasional (5-29%)HP:0040075

Related Conditions

Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Frontonasal dysplasia sequence(parent)

Quick Facts

SNOMED CT
1230021007
UMLS CUI
C5574965
Fully Specified Name
Frontorhiny (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.