Microcephaly-capillary malformation syndrome

disorder

SNOMED 703369003CUI C3280296

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.

Capillary malformation

Always present (100%)HP:0025104

Cortical gyral simplification

Always present (100%)HP:0009879

Extra-axial cerebrospinal fluid accumulation

Always present (100%)HP:0012510

Mental and motor retardation

Always present (100%)HP:0001263

Microcephaly, progressive

Always present (100%)HP:0000253

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Hypoplastic hippocampus

Very frequent (80-99%)HP:0025517

Spastic tetraparesis

Very frequent (80-99%)HP:0001285

Birth weight less than 10th percentile

Frequent (30-79%)HP:0001518

CNS hypomyelination

Frequent (30-79%)HP:0003429

Infantile spasms

Frequent (30-79%)HP:0012469

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Optic atrophy

Frequent (30-79%)HP:0000648

Decreased body height

Occasional (5-29%)HP:0004322

VUR

Occasional (5-29%)HP:0000076

Abnormal hair whorl

HP:0010721

Atria septal defect

HP:0001631

Brachydactyly

HP:0001156

Cerebral atrophy

HP:0002059

Cleft of palate

HP:0000175

Curvature of digit

HP:0030084

Delayed myelination

HP:0012448

Eye drop

HP:0000508

Generalised decreased muscle tone

HP:0001290

Global developmental delay, severe

HP:0011344

Hearing impairment

HP:0000365

Hypoplasia of corpus callosum

HP:0002079

Increased distance between eyes

HP:0000316

Increased nasal width

HP:0000445

Low-set ears

HP:0000369

Related Conditions

Capillary malformation(parent)

Cardiovascular system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Quick Facts

SNOMED CT: 703369003
UMLS CUI: C3280296
Fully Specified Name: Microcephaly-capillary malformation 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.