White forelock with malformations

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.



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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000592 Blue sclerae Very frequent (99-80%)
HP:0001631 Atrial septal defect Very frequent (99-80%)
HP:0002002 Deep philtrum Very frequent (99-80%)
HP:0002086 Abnormality of the respiratory system Very frequent (99-80%)
HP:0002211 White forelock Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000912 Sprengel anomaly Frequent (79-30%)
HP:0003298 Spina bifida occulta 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