Braddock syndrome
Synonyms: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Braddock syndrome | Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency |
| fr | Syndrome de Braddock | Syndrome de Vater-like-hypertension pulmonaire-anomalies des oreilles-retard de croissance |
| de | Braddock-Syndrom | VATER-ähnliches Syndrom - pulmonale Hypertension - Ohranomalien - Kleinwuchs |
| es | Síndrome de Braddock | Síndrome similar a Vater con hipertensión pulmonar, anomalías de las orejas y retraso del crecimiento |
| it | Sindrome di Braddock | Sindrome VATER-simile - ipertensione polmonare - orecchie anomale - difetto di crescita |
| nl | Syndroom van Braddock | VATER-achtig syndroom met pulmonale hypertensie, abnormale oren en groeiachterstand |
| pt | Síndrome Braddock | Síndrome Vater-like com hipertensão pulmonar, anomalias das orelhas, perturbação de crescimento |
| pl | Zespół Braddocka | Zespół podobny do zespołu Vatera z nadciśnieniem płucnym, nieprawidłowymi uszami i niedoborem wzrostu |
| cs | Braddockův syndrom | Syndrom podobný VATER syndromu s plicní hypertenzí, abnormálníma ušima a růstovým deficitem |
| uk | Синдром Браддока | Синдром Ватера з легеневою гіпертензією, аномаліями вух і затримкою росту |
| zh | Braddock综合征 | 壶腹样综合征伴肺动脉高压伴异常耳和生长缺陷 |
| tr | Braddock sendromu | Pulmoner hipertansiyon, anormal kulaklar ve büyüme yetersizliği ile seyreden Vater benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608406 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0012032 | E | validated | |
| UMLS | C4303988 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:275853Syndrome with pulmonary hypertension as a major feature
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 14556254[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14556254[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0002937 | Hemivertebrae | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0005950 | Laryngeal web | |
| HP:0000921 | Missing ribs | |
| HP:0000396 | Overfolded helix | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002206 | Pulmonary fibrosis | |
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000581 | Blepharophimosis | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000601 | Hypotelorism | |
| HP:0000347 | Micrognathia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 14556254[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52047
- This record as JSON: /data/d/52047.json