Microcephalus with brachydactyly and kyphoscoliosis syndrome

disorder

SNOMED 719378009CUI C2931177

Overview

Microcephalus with brachydactyly and kyphoscoliosis 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased muscle mass

Very frequent (80-99%)HP:0003199

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Flat back of skull

Very frequent (80-99%)HP:0005469

IQ less than 20

Very frequent (80-99%)HP:0002187

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Low-set ears

Very frequent (80-99%)HP:0000369

Macrotia

Very frequent (80-99%)HP:0000400

Narrow cranium shape

Very frequent (80-99%)HP:0000268

Narrow, high-arched roof of mouth

Very frequent (80-99%)HP:0002705

Shuffled walk

Very frequent (80-99%)HP:0002362

Zygomatic flattening

Very frequent (80-99%)HP:0000272

Atlantoaxial abnormality

Frequent (30-79%)HP:0003413

Broad big toe

Frequent (30-79%)HP:0010055

Broad thumbs

Frequent (30-79%)HP:0011304

Cataract

Frequent (30-79%)HP:0000518

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Increased mobility of hinge joints

Frequent (30-79%)HP:0005620

Nasal ridge, wide

Frequent (30-79%)HP:0012811

Related Conditions

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

Brachydactyly(parent)

Recessive hereditary disorder (autosomal)(parent)

Small stature(parent)

Hereditary disorder of musculoskeletal system(parent)

Congenital kyphoscoliosis(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719378009
UMLS CUI: C2931177
Fully Specified Name: Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.