Microcephaly-cardiac defect-lung malsegmentation syndrome

Summary

Microcephaly-cardiac defect-lung malsegmentation syndrome (MONDO:0011050) is a disease. A subtype of heart disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 23

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0001629	Ventricular septal defect	Very frequent (80-99%)
HP:0002101	Abnormal lung lobation	Very frequent (80-99%)
HP:0100543	Cognitive impairment	Very frequent (80-99%)
HP:0000104	Renal agenesis	Frequent (30-79%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0000347	Micrognathia	Frequent (30-79%)
HP:0000383	Abnormality of periauricular region	Frequent (30-79%)
HP:0000430	Underdeveloped nasal alae	Frequent (30-79%)
HP:0000465	Webbed neck	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000581	Blepharophimosis	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001387	Joint stiffness	Frequent (30-79%)
HP:0001660	Truncus arteriosus	Frequent (30-79%)
HP:0001679	Abnormal aortic morphology	Frequent (30-79%)
HP:0002705	High, narrow palate	Frequent (30-79%)
HP:0004467	Preauricular pit	Frequent (30-79%)
HP:0006610	Wide intermamillary distance	Frequent (30-79%)
HP:0007598	Bilateral single transverse palmar creases	Frequent (30-79%)
HP:0008678	Renal hypoplasia/aplasia	Frequent (30-79%)
HP:0009882	Short distal phalanx of finger	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	microcephaly-cardiac defect-lung malsegmentation syndrome
Mondo ID	MONDO:0011050
MeSH	C563341
OMIM	601355
Orphanet	2516
SNOMED CT	719379001
UMLS	C1832436
MedGen	371329
GARD	0002098
Is cancer (heuristic)	no

Also known as: Ellis Yale Winter syndrome · Ellis-Yale-Winter syndrome · microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis

Disease family

This is a subtype of heart disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › microcephaly-cardiac defect-lung malsegmentation syndrome

Related subtypes (33): endocardium disorder, pericardium disorder, cardiac tuberculosis, heart conduction disease, hypertensive heart disease, heart valve disorder, cardiomyopathy, coronary artery disorder, heart failure, congenital heart disease, heart aneurysm, rheumatic heart disease, cardiac rhythm disease, white forelock with malformations, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, PHACE syndrome, microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, cardiac anomalies-heterotaxy syndrome, polyvalvular heart disease syndrome, Thomas syndrome, 22q11.2 deletion syndrome, myocardial rupture, heart neoplasm, aortopulmonary window, cor biloculare, inflammation of heart layer, myocardial disorder, carcinoid heart disease, omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome, coronary microvascular disorder, cardiac ventricle disorder, cardiogenetic disease, cardiogenic shock

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.