COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome

disorder

SNOMED 1332382002CUI C4310625

Overview

COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) 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.

Increased size of skull

Always present (100%)HP:0000256

Nanophthalmos

Always present (100%)HP:0000568

Albers-Schonberg disease

Frequent (30-79%)HP:0011002

Bilateral congenital sensorineural deafness

Frequent (30-79%)HP:0008527

Central hypotonia

Frequent (30-79%)HP:0001252

Decreased body height

Frequent (30-79%)HP:0004322

Decreased corneal diameter

Frequent (30-79%)HP:0000482

Fair skin

Frequent (30-79%)HP:0007513

Frontal protuberance

Frequent (30-79%)HP:0002007

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Increased bone mineral density

Frequent (30-79%)HP:0011001

Iris transillumination defect

Frequent (30-79%)HP:0012805

Large cavum septi pellucidi

Frequent (30-79%)HP:0002389

Lens opacities

Frequent (30-79%)HP:0000518

Notched pupil

Frequent (30-79%)HP:0000589

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Preauricular fistulas

Frequent (30-79%)HP:0004467

Relatively large head

Frequent (30-79%)HP:0004482

Shallow eye sockets

Frequent (30-79%)HP:0000586

Weight less than 3rd percentile

Frequent (30-79%)HP:0004325

Related Conditions

Congenital macrocephaly(parent)

Inherited metabolic disorder of nervous system(parent)

Chronic nervous system disease(parent)

Chronic metabolic disease(parent)

Osteopetrosis(parent)

Hearing loss associated with syndrome(parent)

Inherited optic neuropathy(parent)

Metabolic bone disease(parent)

Colobomatous microphthalmia(parent)

Multiple system malformation syndrome(parent)

Hypoplasia of the optic nerve(parent)

Congenital deafness(parent)

Chronic skin disease(parent)

Oculocutaneous albinism(parent)

Congenital sensorineural hearing loss(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1332382002
UMLS CUI: C4310625
Fully Specified Name: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.