Neurofaciodigitorenal syndrome

Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(26.3%)		 11310993
 A new familial syndrome with facial abnormalities, abnormal EEG, and mental retardation.
Megarbane A.
Clin Dysmorphol. 2001;10(2):129-33.
Hypertelorism Bifid nasal tip
Blepharoptosis Child Child, Preschool Electroencephalography Females Homo sapiens Intellectual Disability Nose Nuclear Family Tooth Abnormalities
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001199 Triphalangeal thumb Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008572 External ear malformation Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0009912 Abnormality of the tragus Very frequent (99-80%)
HP:0010650 Hypoplasia of the premaxilla Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)
HP:0011830 Abnormal oral mucosa morphology Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000122 Unilateral renal agenesis Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000288 Abnormality of the philtrum Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001131 Corneal dystrophy Frequent (79-30%)
HP:0001357 Plagiocephaly Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0009811 Abnormality of the elbow Frequent (79-30%)
HP:0009832 Abnormal distal phalanx morphology of finger 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