Acrofrontofacionasal dysostosis

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(33.7%)		 10327243
 Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
Guion-Almeida ML, Richieri-Costa A.
Clin Dysmorphol. 1999;8(1):1-4.
Hypertelorism Smooth philtrum
ALX3
rs587779774
Central Nervous System Face Females Homo sapiens Infant Intellectual Disability Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000625 Eyelid coloboma Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0001088 Brushfield spots Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001798 Anonychia Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0004132 Dimple on nasal tip Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Frequent (79-30%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000048 Bifid scrotum Occasional (29-5%)
HP:0000119 Abnormality of the genitourinary system Occasional (29-5%)


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