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Syndromic orbital border hypoplasia

MedGen UID:
318965
•Concept ID:
C1833795
•
Disease or Syndrome
Synonym: Orbital margin, hypoplasia of
 
Monarch Initiative: MONDO:0008138
OMIM®: 165600
Orphanet: ORPHA98606

Definition

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. [from ORDO]

Clinical features

From HPO
Lacrimal duct atresia
MedGen UID:
576318
•Concept ID:
C0344511
•
Congenital Abnormality
A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
See: Feature record | Search on this feature
Lower eyelid coloboma
MedGen UID:
373417
•Concept ID:
C1837826
•
Disease or Syndrome
A short discontinuity of the margin of the lower eyelid.
See: Feature record | Search on this feature
Congenital extraocular muscle anomaly
MedGen UID:
870378
•Concept ID:
C4024823
•
Congenital Abnormality
Congenital abnormality of the extraocular muscles.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Foster-type modification of the Knapp procedure for anomalous superior rectus muscles in syndromic craniosynostoses.
Rattigan S, Nischal KK
J AAPOS 2003 Aug;7(4):279-82. doi: 10.1016/s1091-8531(03)00148-4. PMID: 12917616

Therapy

The fetal valproate syndrome.
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

Prognosis

Innovative Surgical Treatment of Severe Cherubism.
Son JH, Marshall DC, Valiathan M, Otteson T, Ferretti G, Grigorian PA, Rosen C, Becker D, Rowe D, Soltanian H, Lakin G
Cleft Palate Craniofac J 2019 Jan;56(1):90-93. Epub 2018 May 22 doi: 10.1177/1055665618774008. PMID: 29787301

Clinical prediction guides

The fetal valproate syndrome.
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

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