Metopic ridging, ptosis, facial dysmorphism syndrome

disorder

SNOMED 1179283004CUI C5568107

Overview

Metopic ridging, ptosis, facial dysmorphism syndrome 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.

Eyelid ptosis

Very frequent (80-99%)HP:0000508

ASD

Frequent (30-79%)HP:0000729

Cupid-bow shaped upper lip

Frequent (30-79%)HP:0002263

Delayed language development

Frequent (30-79%)HP:0000750

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Ear anomalies

Frequent (30-79%)HP:0000356

Feeding difficulties

Frequent (30-79%)HP:0011968

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hyperplasia of nasal tip

Frequent (30-79%)HP:0005274

Muscular hypotonia

Frequent (30-79%)HP:0001252

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

No development of motor milestones

Frequent (30-79%)HP:0001270

Nostrils anteverted

Frequent (30-79%)HP:0000463

Palpebronasal fold

Frequent (30-79%)HP:0000286

Prominent frontal suture

Frequent (30-79%)HP:0005487

Small nose

Frequent (30-79%)HP:0003196

Thick, flared eyebrows

Frequent (30-79%)HP:0002553

Wide philtrum

Frequent (30-79%)HP:0000289

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Cardiac anomaly

Occasional (5-29%)HP:0001627

Colpocephaly

Occasional (5-29%)HP:0030048

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Hypoacusis

Occasional (5-29%)HP:0000365

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Increased distance between eyes

Occasional (5-29%)HP:0000316

Limb anomaly

Occasional (5-29%)HP:0040064

Related Conditions

Congenital ptosis(parent)

Craniosynostosis syndrome(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1179283004
UMLS CUI: C5568107
Fully Specified Name: Metopic ridging, ptosis, facial dysmorphism syndrome (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.