Syndromic orbital border hypoplasia

Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.



Input patient's signs and symptoms


Narrow down the case reports



Total: 24 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 11285448
 [Urrets-Zavalia syndrome].
Bourcier T, Laplace O, Touzeau O, Moldovan SM, Borderie V, Laroche L.
J Fr Ophtalmol. 2001;24(3):303-8.
Iris atrophy
Adult Females Follow-Up Studies Fuchs Endothelial Dystrophy Homo sapiens Iris Diseases Ischemia Keratoconus Keratoplasty, Penetrating Male Middle Aged Mydriasis Syndrome Time Factors
1
(4.0%)		 10418633
 [A case of an incomplete Urrets-Zavalia syndrome as a result of operated keratoconus].
Selaru D, Diaconu E, Macelaru D.
Oftalmologia. 1998;45(4):76-8.
Keratoconus
Adult Differential Diagnosis Homo sapiens Keratoconus Keratoplasty, Penetrating Male Mydriasis Postoperative Complications Syndrome
1
(4.0%)		 8575186
 Iris ischaemia following penetrating keratoplasty for keratoconus (Urrets-Zavalia syndrome)
Tuft SJ, Buckley RJ.
Cornea. 1995;14(6):618-22.
Keratoconus
Adult Cornea Females Fluorescein Angiography Fluorophotometry Homo sapiens Ischemia Keratoconus Keratoplasty, Penetrating Male Mydriasis Postoperative Complications Pupil
1
(4.0%)		 6348146
 [Proposed treatment of the Urrets-Zavalia syndrome. A propos of one reversible case].
Lagoutte F, Thienpont P, Comte P.
J Fr Ophtalmol. 1983;6(3):291-4.
Keratoconus
Adult Homo sapiens Iris Diseases Keratoconus Keratoplasty Male Miotics Parasympathomimetic Agents Pupil Sympatholytics Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000563 Keratoconus 7
HP:0001089 Iris atrophy 2
HP:0000501 Glaucoma 1
HP:0000518 Cataract 1
HP:0000969 Edema 1
HP:0010923 Anterior subcapsular cataract 1
HP:0011499 Mydriasis 1
HP:0031624 Moderate myopia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID