Plantar lipomatosis, facial dysmorphism, developmental delay syndrome

disorder

SNOMED 1220594007CUI C1865644

Overview

Plantar lipomatosis, facial dysmorphism, developmental delay 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.

Broad, upturned nose

Always present (100%)HP:0000455

Decreased body height

Always present (100%)HP:0004322

Deep wrinkles in soles of feet

Always present (100%)HP:0001869

Large fleshy ears

Always present (100%)HP:0002265

Speech delay

Always present (100%)HP:0000750

Abnormal subcutaneous fat tissue distribution

Very frequent (80-99%)HP:0007552

Deep palmar creases

Very frequent (80-99%)HP:0006191

Fallen arches

Very frequent (80-99%)HP:0001763

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Narrow palpebral fissure

Very frequent (80-99%)HP:0045025

Nasal ridge, wide

Very frequent (80-99%)HP:0012811

Poor school performance

Very frequent (80-99%)HP:0001249

Protruding lower lip

Very frequent (80-99%)HP:0000232

Wide-spaced teeth

Very frequent (80-99%)HP:0000687

Atrophy/Degeneration affecting the central nervous system

Frequent (30-79%)HP:0007367

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased body weight

Frequent (30-79%)HP:0004325

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Enophthalmos

Frequent (30-79%)HP:0000490

Excessive wrinkling of palmar skin

Frequent (30-79%)HP:0007605

Flat philtrum

Frequent (30-79%)HP:0000319

Hearing impairment

Frequent (30-79%)HP:0000365

Long upper lip

Frequent (30-79%)HP:0011341

Low birth weight

Frequent (30-79%)HP:0001518

Minor feet anomalies

Frequent (30-79%)HP:0100872

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Prominent finger pads

Frequent (30-79%)HP:0001212

Short toes

Frequent (30-79%)HP:0001831

Small skull present at birth

Frequent (30-79%)HP:0011451

Related Conditions

Autosomal dominant hereditary disorder(parent)

Disorder of foot(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Lipomatosis(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1220594007
UMLS CUI: C1865644
Fully Specified Name: Pierpont 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.