Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome

disorder

SNOMED 783005002CUI C5190778

Overview

Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy 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.

Abnormal dermatoglyphics

Very frequent (80-99%)HP:0007477

Abnormality of movement

Very frequent (80-99%)HP:0100022

Accessory nipples

Very frequent (80-99%)HP:0002558

Bilateral single transverse palmar creases

Very frequent (80-99%)HP:0007598

Broad thumbs

Very frequent (80-99%)HP:0011304

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Frontal protuberance

Very frequent (80-99%)HP:0002007

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Indentation of chin

Very frequent (80-99%)HP:0010751

Intellectual impairment

Very frequent (80-99%)HP:0100543

Missing between one and six teeth

Very frequent (80-99%)HP:0000668

Prominent ear lobes

Very frequent (80-99%)HP:0009748

Short and broad skull

Very frequent (80-99%)HP:0000248

Spasticity and rigidity of muscles

Very frequent (80-99%)HP:0001276

Tessier cleft

Very frequent (80-99%)HP:0002006

Underdeveloped ear cartilage

Very frequent (80-99%)HP:0100720

Abnormal palate morphology

Frequent (30-79%)HP:0000174

Abnormality of the chest

Frequent (30-79%)HP:0000765

Epilepsy

Frequent (30-79%)HP:0001250

Grey sclerae

Frequent (30-79%)HP:0000592

Iris coloboma

Frequent (30-79%)HP:0000612

Lip pit

Frequent (30-79%)HP:0100267

Mandibular hyperplasia

Frequent (30-79%)HP:0000303

Nanophthalmos

Frequent (30-79%)HP:0000568

Preauricular skin tags

Frequent (30-79%)HP:0000384

Proximal interphalangeal finger joint contractures

Frequent (30-79%)HP:0100490

Squint

Frequent (30-79%)HP:0000486

Related Conditions

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

Congenital abnormality of skull shape(parent)

Brachycephaly(parent)

Athetoid cerebral palsy(parent)

Congenital deformity of musculoskeletal system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 783005002
UMLS CUI: C5190778
Fully Specified Name: Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy 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.