Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome

disorder

SNOMED 733417008CUI C4518773

Overview

Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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 palate morphology

Very frequent (80-99%)HP:0000174

Big calvaria

Very frequent (80-99%)HP:0000256

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Dandy-Walker cyst

Very frequent (80-99%)HP:0001305

Dental problems

Very frequent (80-99%)HP:0000164

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Fundus atrophy

Very frequent (80-99%)HP:0001099

Helix abnormal

Very frequent (80-99%)HP:0011039

High forehead

Very frequent (80-99%)HP:0000348

Hirsutism

Very frequent (80-99%)HP:0001007

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Mental deficiency

Very frequent (80-99%)HP:0001249

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Near sighted

Very frequent (80-99%)HP:0000545

Optic atrophy

Very frequent (80-99%)HP:0000648

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Paralysis or weakness of one side of body

Very frequent (80-99%)HP:0004374

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Scoliosis

Very frequent (80-99%)HP:0002650

Thick eyebrow

Very frequent (80-99%)HP:0000574

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Unibrow

Very frequent (80-99%)HP:0000664

Wide fingernails

Very frequent (80-99%)HP:0001821

Seizures

Frequent (30-79%)HP:0001250

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Central hypotonia

Occasional (5-29%)HP:0001252

Cryptorchidism

Occasional (5-29%)HP:0000028

Smaller than typical growth of scrotum

Occasional (5-29%)HP:0000046

Related Conditions

Dandy-Walker syndrome(parent)

Severe myopia(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 733417008
UMLS CUI: C4518773
Fully Specified Name: Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.