Cranio-facio-digito-genital syndrome

disorder

SNOMED 716089008CUI C0795970

Overview

Cranio-facio-digito-genital 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.

Angle class 3 malocclusion

Very frequent (80-99%)HP:0000689

Arachnodactyly

Very frequent (80-99%)HP:0001166

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Decreased transverse dimension of face

Very frequent (80-99%)HP:0000275

High arched palate

Very frequent (80-99%)HP:0000218

Increased nasal height

Very frequent (80-99%)HP:0003189

Low intelligence

Very frequent (80-99%)HP:0001249

Narrow mouth

Very frequent (80-99%)HP:0000160

Ocular hypotelorism

Very frequent (80-99%)HP:0000601

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Protruding ear

Very frequent (80-99%)HP:0000411

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Small pointed chin

Very frequent (80-99%)HP:0000307

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Abnormality of pelvic girdle bone morphology

Frequent (30-79%)HP:0002644

Abnormality of the shoulder

Frequent (30-79%)HP:0003043

Cataract

Frequent (30-79%)HP:0000518

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cryptorchidism

Frequent (30-79%)HP:0000028

Epilepsy

Frequent (30-79%)HP:0001250

Hunched back

Frequent (30-79%)HP:0002808

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Hypospadias

Frequent (30-79%)HP:0000047

Joint instability

Frequent (30-79%)HP:0001382

Multicystic kidney dysplasia

Frequent (30-79%)HP:0000003

Related Conditions

Arachnodactyly(parent)

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

Congenital malformation of genital organs(parent)

Congenital abnormality of skull and face bones(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 716089008
UMLS CUI: C0795970
Fully Specified Name: Craniofacial digital and genital anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.