Acromelic frontonasal dysplasia

A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.



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Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 1733166
 Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L.
Am J Med Genet. 1992;42(2):180-3.
Dandy-Walker malformation Polydactyly
Brain Females Head Homo sapiens Infant, Newborn Male Phenotype Pregnancy Syndrome Toes
2
(31.0%)		 15264282
 Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
Hing AV, Syed N, Cunningham ML.
Am J Med Genet A. 2004;128A(4):374-82.
Preaxial polydactyly
Child Craniofacial Dysostosis DNA Mutational Analysis Females Genes, Dominant Genotype Haplotypes Homo sapiens Male Penetrance Polydactyly Short Tandem Repeat X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000456 Bifid nasal tip Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001762 Talipes equinovarus Very frequent (99-80%)
HP:0001841 Preaxial foot polydactyly Very frequent (99-80%)
HP:0002056 Abnormality of the glabella Very frequent (99-80%)
HP:0002084 Encephalocele Very frequent (99-80%)
HP:0002435 Meningocele Very frequent (99-80%)
HP:0006866 Midline central nervous system lipomas Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0009099 Median cleft palate Very frequent (99-80%)
HP:0009928 Thick nasal alae Very frequent (99-80%)
HP:0011803 Bifid nose Very frequent (99-80%)
HP:0000161 Median cleft lip Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002190 Choroid plexus cyst Frequent (79-30%)
HP:0040326 Hypoplasia of the olfactory bulb Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0002690 Large sella turcica Occasional (29-5%)
HP:0002781 Upper airway obstruction Occasional (29-5%)
HP:0003065 Patellar hypoplasia Occasional (29-5%)
HP:0005772 Aplasia/Hypoplasia of the tibia Occasional (29-5%)
HP:0006951 Retrocerebellar cyst Occasional (29-5%)
HP:0010627 Anterior pituitary hypoplasia Occasional (29-5%)
HP:0040075 Hypopituitarism Occasional (29-5%)
HP:0000501 Glaucoma Very rare (4-1%)
HP:0025247 Dermoid cyst Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0010442 Polydactyly 1
HP:0100258 Preaxial polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ZSWIM6 zinc finger SWIM-type containing 6 57688