Hypomandibular faciocranial dysostosis

disorder

SNOMED 721845005CUI C1855848

Overview

Hypomandibular faciocranial 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.

Abnormal tracheobronchial morphology

Very frequent (80-99%)HP:0005607

Aplasia/Hypoplasia of the tongue

Very frequent (80-99%)HP:0010295

Intellectual impairment

Very frequent (80-99%)HP:0100543

Low-set ears

Very frequent (80-99%)HP:0000369

Maxillozygomatic hypoplasia

Very frequent (80-99%)HP:0005439

Nasal hypoplasia

Very frequent (80-99%)HP:0003196

Nostrils anteverted

Very frequent (80-99%)HP:0000463

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Small midface

Very frequent (80-99%)HP:0011800

Cleft of palate

Frequent (30-79%)HP:0000175

Coanal stenosis

Frequent (30-79%)HP:0000452

Craniosyostosis

Frequent (30-79%)HP:0001363

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Hydramnios

Frequent (30-79%)HP:0001561

Hypoplastic larynx

Frequent (30-79%)HP:0008749

Narrow mouth

Frequent (30-79%)HP:0000160

Optic disc coloboma

Frequent (30-79%)HP:0000588

Protruding eyes

Frequent (30-79%)HP:0000520

Short and broad skull

Frequent (30-79%)HP:0000248

Uvula bifida

Frequent (30-79%)HP:0000193

Abnormal morphology of female internal genitalia

Occasional (5-29%)HP:0000008

Atria septal defect

Occasional (5-29%)HP:0001631

Mongoloid slant

Occasional (5-29%)HP:0000582

Narrowing of windpipe

Occasional (5-29%)HP:0002777

PDA

Occasional (5-29%)HP:0001643

Wedge shaped head

Occasional (5-29%)HP:0000243

Absence of tongue

HP:0012730

Craniosynostosis of coronal suture

HP:0004440

Decreased projection of mandible

HP:0000347

Hypotrophic malar bone

HP:0000272

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Dysostosis of bone of skull(parent)

Congenital anomaly of mandible(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721845005
UMLS CUI: C1855848
Fully Specified Name: Hypomandibular faciocranial dysostosis (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.