Hepatic fibrosis-renal cysts-intellectual disability syndrome

Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.



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

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000508 Ptosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002612 Congenital hepatic fibrosis Very frequent (99-80%)
HP:0000003 Multicystic kidney dysplasia Frequent (79-30%)
HP:0000107 Renal cyst Frequent (79-30%)
HP:0000162 Glossoptosis Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000478 Abnormality of the eye Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000504 Abnormality of vision Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000567 Chorioretinal coloboma Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002435 Meningocele Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0100022 Abnormality of movement 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