Macrocephaly with spastic paraplegia and dysmorphism syndrome

disorder

SNOMED 716108004CUI C1838281

Overview

Macrocephaly with spastic paraplegia and 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.

Big calvaria

Very frequent (80-99%)HP:0000256

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Low intelligence

Very frequent (80-99%)HP:0001249

Seizures

Very frequent (80-99%)HP:0001250

Coarse face

Frequent (30-79%)HP:0000280

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Deep set eye

Frequent (30-79%)HP:0000490

Gait disturbance

Frequent (30-79%)HP:0001288

High forehead

Frequent (30-79%)HP:0000348

Hypertrophy of supraorbital ridge

Frequent (30-79%)HP:0000336

Increased reflexes

Frequent (30-79%)HP:0001347

Large mouth

Frequent (30-79%)HP:0000154

Protruding lower lip

Frequent (30-79%)HP:0000232

Truncal obesity

Frequent (30-79%)HP:0001956

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Hunched back

Occasional (5-29%)HP:0002808

Increased size of mandible

Occasional (5-29%)HP:0000303

Low posterior hair line

Occasional (5-29%)HP:0002162

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Thick eyebrow

Occasional (5-29%)HP:0000574

Thick hair

Occasional (5-29%)HP:0100874

Unibrow

Occasional (5-29%)HP:0000664

Related Conditions

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

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Quick Facts

SNOMED CT: 716108004
UMLS CUI: C1838281
Fully Specified Name: Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.