SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome

disorder

SNOMED 1187278006CUI C5568869

Overview

SPPRS (spastic paraplegia, psychomotor retardation, seizures) 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.

Epilepsy

Very frequent (80-99%)HP:0001250

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Progressive spastic paraplegia

Very frequent (80-99%)HP:0007020

Absent pubertal growth spurt

Frequent (30-79%)HP:0031087

Ataxia

Frequent (30-79%)HP:0001251

Breakdown of light-sensitive cells in back of eye

Frequent (30-79%)HP:0000556

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Deep set eye

Frequent (30-79%)HP:0000490

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dislocated femoral heads

Frequent (30-79%)HP:0002827

Downturned corners of mouth

Frequent (30-79%)HP:0002714

Dystonic movements

Frequent (30-79%)HP:0001332

Exophoria

Frequent (30-79%)HP:0025313

Gait disturbance

Frequent (30-79%)HP:0001288

Generalized myoclonic seizure

Frequent (30-79%)HP:0002123

Hunched back

Frequent (30-79%)HP:0002808

Increased distance between eyes

Frequent (30-79%)HP:0000316

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Near sighted

Frequent (30-79%)HP:0000545

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Sensorineural deafness

Frequent (30-79%)HP:0000407

Spasticity of lower limb

Frequent (30-79%)HP:0002061

Speech and language difficulties

Frequent (30-79%)HP:0000750

Truncal hypotonia

Frequent (30-79%)HP:0008936

Unsteady walk

Frequent (30-79%)HP:0002317

Waddling gait

Frequent (30-79%)HP:0002515

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Delayed peripheral myelination

Occasional (5-29%)HP:0011401

Related Conditions

Complicated hereditary spastic paraplegia(parent)

Developmental delay(parent)

Developmental hereditary disorder(parent)

Encephalomyelopathy(parent)

Chronic brain syndrome(parent)

Epilepsy(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1187278006
UMLS CUI: C5568869
Fully Specified Name: Spastic paraplegia, severe developmental delay, epilepsy 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.