Dislocation of the hip-dysmorphism syndrome

Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.



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

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0001374 Congenital hip dislocation Frequent (79-30%)
HP:0001671 Abnormal cardiac septum morphology Frequent (79-30%)
HP:0001702 Abnormal tricuspid valve morphology Frequent (79-30%)
HP:0004097 Deviation of finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0010759 Prominence of the premaxilla Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000079 Abnormality of the urinary system Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002815 Abnormality of the knee Occasional (29-5%)
HP:0011328 Abnormality of fontanelles Occasional (29-5%)


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