X-linked mandibulofacial dysostosis

disorder

SNOMED 719813003CUI C1844918

Overview

X-linked mandibulofacial dysostosis 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.

Abnormality of branchial apparatus

Very frequent (80-99%)HP:0009794

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

High arched palate

Very frequent (80-99%)HP:0000218

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Inverted triangular face

Very frequent (80-99%)HP:0000325

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Protruding ear

Very frequent (80-99%)HP:0000411

Pterygium colli

Very frequent (80-99%)HP:0000465

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Small malar bone

Very frequent (80-99%)HP:0010669

Cryptorchidism

Frequent (30-79%)HP:0000028

Hypotrophic eyebrow

Frequent (30-79%)HP:0100840

Palpebronasal fold

Frequent (30-79%)HP:0000286

Abnormal mitral valve morphology

Occasional (5-29%)HP:0001633

Abnormality of lung artery

Occasional (5-29%)HP:0004414

Eye drop

Occasional (5-29%)HP:0000508

Pectus excavatum

Occasional (5-29%)HP:0000767

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Unbalanced face

Occasional (5-29%)HP:0000324

Uneven or disproportionate growth of one body part compared to another

Occasional (5-29%)HP:0100555

Hypoacusis

HP:0000365

Low-set ears

HP:0000369

Narrow, high-arched roof of mouth

HP:0002705

Specific learning disability

HP:0001328

Related Conditions

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

Congenital anomaly of face bones(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Lesion of face(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 719813003
UMLS CUI: C1844918
Fully Specified Name: X-linked mandibulofacial dysostosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.