Abruzzo-Erickson syndrome

An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.



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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: 24

HPO ID Term Frequency
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0008743 Coronal hypospadias Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000567 Chorioretinal coloboma Frequent (79-30%)
HP:0000589 Coloboma Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0009465 Ulnar deviation of finger Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000405 Conductive hearing impairment Occasional (29-5%)
HP:0000482 Microcornea Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0001831 Short toe Occasional (29-5%)
HP:0010751 Dimple chin Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TBX22 T-box 22 50945