Overgrowth, macrocephaly, facial dysmorphism syndrome

disorder

SNOMED 722122000CUI C4302813

Overview

Overgrowth, macrocephaly, facial dysmorphism 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.

Accelerated linear growth

Very frequent (80-99%)HP:0000098

Big calvaria

Very frequent (80-99%)HP:0000256

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Fetal macrosomia

Very frequent (80-99%)HP:0001520

Full lower lip

Very frequent (80-99%)HP:0000179

Funny looking face

Very frequent (80-99%)HP:0001999

Generalised overgrowth

Very frequent (80-99%)HP:0001548

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Abnormal pulmonary valve morphology

Occasional (5-29%)HP:0001641

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Aplasia/Hypoplasia of the optic nerve

Occasional (5-29%)HP:0008058

ASD

Occasional (5-29%)HP:0000729

Early bone maturation

Occasional (5-29%)HP:0005616

Hypoacusis

Occasional (5-29%)HP:0000365

Hypoplastic optic nerves

Occasional (5-29%)HP:0000609

Malformation of head shape

Occasional (5-29%)HP:0000267

Mental retardation, mild

Occasional (5-29%)HP:0001256

Pectus carinatum

Occasional (5-29%)HP:0000768

Pectus deformities

Occasional (5-29%)HP:0000766

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Speech dyspraxia

Occasional (5-29%)HP:0011098

Squint

Occasional (5-29%)HP:0000486

Unilateral cryptorchidism

Occasional (5-29%)HP:0012741

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple malformation syndrome with early overgrowth(parent)

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

Developmental hereditary disorder(parent)

Congenital macrocephaly(parent)

Quick Facts

SNOMED CT: 722122000
UMLS CUI: C4302813
Fully Specified Name: Overgrowth, macrocephaly, facial dysmorphism 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.