Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).



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

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000003 Multicystic kidney dysplasia Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0002019 Constipation Very frequent (99-80%)
HP:0002514 Cerebral calcification Very frequent (99-80%)
HP:0004389 Intestinal pseudo-obstruction Very frequent (99-80%)
HP:0010956 Fetal megacystis Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000411 Protruding ear Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000535 Sparse and thin eyebrow Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001601 Laryngomalacia Frequent (79-30%)
HP:0004279 Short palm Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0007678 Lacrimal duct stenosis 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