Absence deformity of leg-cataract syndrome

A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002814 Abnormality of the lower limb Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0009816 Lower limb undergrowth Very frequent (99-80%)
HP:0002023 Anal atresia 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