Acrocraniofacial dysostosis

disorder

SNOMED 720418008CUI C1860145

Overview

Acrocraniofacial 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 toenail morphology

Very frequent (80-99%)HP:0008388

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Abnormality of the fingernails

Very frequent (80-99%)HP:0001231

Broad thumbs

Very frequent (80-99%)HP:0011304

Cleft of palate

Very frequent (80-99%)HP:0000175

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased projection of mandible

Very frequent (80-99%)HP:0000347

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dysplastic ears

Very frequent (80-99%)HP:0000377

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Flared iliac wings

Very frequent (80-99%)HP:0002869

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Notched outermost bone of big toe

Very frequent (80-99%)HP:0010097

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Preauricular sinus

Very frequent (80-99%)HP:0004467

Prominent globes

Very frequent (80-99%)HP:0000520

Shortened 1st long bone of hand

Very frequent (80-99%)HP:0010034

Tall shaped head

Very frequent (80-99%)HP:0000262

Tapering fingers

Very frequent (80-99%)HP:0001182

Triphalangy of thumb

Very frequent (80-99%)HP:0001199

Abnormal incus morphology

Frequent (30-79%)HP:0011453

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of tear production

Frequent (30-79%)HP:0000632

Abnormality of the hips

Frequent (30-79%)HP:0003272

Abnormality of the malleus

Frequent (30-79%)HP:0011454

Choanal atresia

Frequent (30-79%)HP:0000453

Related Conditions

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

Recessive hereditary disorder (autosomal)(parent)

Dysostosis of bone of skull(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720418008
UMLS CUI: C1860145
Fully Specified Name: Acrocraniofacial 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.