Holoprosencephaly-caudal dysgenesis syndrome

Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).



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

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000078 Abnormality of the genital system Frequent (79-30%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000161 Median cleft lip Frequent (79-30%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000924 Abnormality of the skeletal system Frequent (79-30%)
HP:0001360 Holoprosencephaly Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0002818 Abnormality of the radius Frequent (79-30%)
HP:0004059 Radial club hand Frequent (79-30%)
HP:0009914 Cyclopia Frequent (79-30%)
HP:0010662 Abnormality of the diencephalon Frequent (79-30%)
HP:0100659 Abnormality of the cerebral vasculature 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