Acrootoocular syndrome

A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000301 Abnormality of facial musculature Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000363 Abnormality of earlobe Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000413 Atresia of the external auditory canal Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000538 Pseudopapilledema Frequent (79-30%)
HP:0000581 Blepharophimosis Frequent (79-30%)
HP:0000601 Hypotelorism Frequent (79-30%)
HP:0000674 Anodontia Frequent (79-30%)
HP:0000683 Grayish enamel Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000689 Dental malocclusion Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0000824 Growth hormone deficiency Frequent (79-30%)
HP:0001245 Small thenar eminence Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001518 Small for gestational age Frequent (79-30%)
HP:0001773 Short foot Frequent (79-30%)
HP:0001831 Short toe Frequent (79-30%)
HP:0001852 Sandal gap Frequent (79-30%)
HP:0002705 High, narrow palate Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0002751 Kyphoscoliosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006143 Abnormal finger flexion creases Frequent (79-30%)
HP:0006184 Decreased palmar creases Frequent (79-30%)
HP:0007481 Hyperpigmented nevi Frequent (79-30%)
HP:0007930 obsolete Prominent epicanthal folds Frequent (79-30%)
HP:0009381 Short finger Frequent (79-30%)
HP:0010049 Short metacarpal Frequent (79-30%)
HP:0010487 Small hypothenar eminence Frequent (79-30%)
HP:0010765 Palmar hyperkeratosis Frequent (79-30%)
HP:0011069 Increased number of teeth Frequent (79-30%)
HP:0012428 Prominent calcaneus Frequent (79-30%)
HP:0012725 Cutaneous syndactyly Frequent (79-30%)
HP:0012810 Wide nasal base Frequent (79-30%)
HP:0030842 Choking episodes Frequent (79-30%)
HP:0001249 Intellectual disability Excluded (0%)


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