MASA syndrome

disorder

SNOMED 838441009CUI C0795953

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased body height

Very frequent (80-99%)HP:0004322

Difficulty finding words

Very frequent (80-99%)HP:0002381

Dull intelligence

Very frequent (80-99%)HP:0001249

Gait disturbance

Very frequent (80-99%)HP:0001288

Increased reflexes

Very frequent (80-99%)HP:0001347

Paralysis or weakness of one side of body

Very frequent (80-99%)HP:0004374

Spastic paraplegia

Very frequent (80-99%)HP:0001258

Speech delay

Very frequent (80-99%)HP:0000750

Thumb clasp

Very frequent (80-99%)HP:0001188

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Big calvaria

HP:0000256

Decreased size of cranium

HP:0000252

Fetal foot inversion

HP:0001762

Hunched back

HP:0002808

Leg paralysis

HP:0010550

Nonsyndromal hydrocephalus

HP:0000238

Pes cavus

HP:0001761

Prominent swayback

HP:0003307

Shuffled walk

HP:0002362

Spasticity of lower limb

HP:0002061

Squint

HP:0000486

Thumb-in-palm pattern

HP:0001181

Related Conditions

Congenital abnormal shape of digit(parent)

Congenital malformation of thumb(parent)

Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome(parent)

Congenital deformity of hand(parent)

Quick Facts

SNOMED CT: 838441009
UMLS CUI: C0795953
Fully Specified Name: Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.