Mandibulofacial dysostosis, Guion-Almeida type

disorder

SNOMED 711543008CUI C1864652

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormal middle ear morphology

Very frequent (80-99%)HP:0008609

Absent tragus

Very frequent (80-99%)HP:0011268

Cleft of palate

Very frequent (80-99%)HP:0000175

Decreased body height

Very frequent (80-99%)HP:0004322

Ear anomalies

Very frequent (80-99%)HP:0000356

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Low-set ears

Very frequent (80-99%)HP:0000369

Mental-retardation

Very frequent (80-99%)HP:0001249

Microtia

Very frequent (80-99%)HP:0008551

Mongoloid slant

Very frequent (80-99%)HP:0000582

Postnatal microcephaly

Very frequent (80-99%)HP:0005484

Retrusion of upper jaw bones

Very frequent (80-99%)HP:0000327

Skin tag on the posterior cheek

Very frequent (80-99%)HP:0000384

Small nose

Very frequent (80-99%)HP:0003196

Speech delay

Very frequent (80-99%)HP:0000750

Trigonocephaly

Very frequent (80-99%)HP:0000243

Underdeveloped tragus

Very frequent (80-99%)HP:0011272

External auditory meatal atresia

Frequent (30-79%)HP:0000413

Extra oral frenum

Frequent (30-79%)HP:0000191

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Overfolded helix

Frequent (30-79%)HP:0000396

Palpebronasal fold

Frequent (30-79%)HP:0000286

Preaxial hand polydactyly

Frequent (30-79%)HP:0001177

Prominent ear lobes

Frequent (30-79%)HP:0009748

Attachment of thumb close to wrist

Occasional (5-29%)HP:0009623

Epilepsy

Occasional (5-29%)HP:0001250

Esophageal atresia

Occasional (5-29%)HP:0002032

Related Conditions

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

Quick Facts

SNOMED CT: 711543008
UMLS CUI: C1864652
Fully Specified Name: Mandibulofacial dysostosis with microcephaly (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.