Braddock syndrome

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 24

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


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID