Braddock syndrome

Summary

Braddock syndrome (MONDO:0012032) is a disease. A subtype of pulmonary hypertension — 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): 24

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0000358	Posteriorly rotated ears	Very frequent (80-99%)
HP:0000396	Overfolded helix	Very frequent (80-99%)
HP:0000592	Blue sclerae	Very frequent (80-99%)
HP:0000767	Pectus excavatum	Very frequent (80-99%)
HP:0000921	Missing ribs	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0002092	Pulmonary arterial hypertension	Very frequent (80-99%)
HP:0002206	Pulmonary fibrosis	Very frequent (80-99%)
HP:0002937	Hemivertebrae	Very frequent (80-99%)
HP:0005950	Laryngeal web	Very frequent (80-99%)
HP:0000122	Unilateral renal agenesis	Frequent (30-79%)
HP:0000286	Epicanthus	Frequent (30-79%)
HP:0000347	Micrognathia	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000581	Blepharophimosis	Frequent (30-79%)
HP:0000601	Hypotelorism	Frequent (30-79%)
HP:0001177	Preaxial hand polydactyly	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0002643	Neonatal respiratory distress	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0005988	Congenital muscular torticollis	Frequent (30-79%)
HP:0006610	Wide intermamillary distance	Frequent (30-79%)
HP:0010720	Abnormal hair pattern	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Braddock syndrome
Mondo ID	MONDO:0012032
MeSH	C564244
OMIM	608406
Orphanet	52047
SNOMED CT	720575002
UMLS	C1842082
MedGen	333986
GARD	0016652
Is cancer (heuristic)	no

Also known as: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Disease family

This is a subtype of pulmonary hypertension. 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 › vascular disorder › arterial disorder › hypertensive disorder › pulmonary hypertension › Braddock syndrome

Related subtypes (5): chronic thromboembolic pulmonary hypertension, hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome, pulmonary arterial hypertension, pulmonary hypertension owing to lung disease and/or hypoxia, pulmonary hypertension, neonatal

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.