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Oculomaxillofacial dysostosis(OBLFC1)

MedGen UID:
333072
Concept ID:
C1838348
Disease or Syndrome
Synonyms: OBLFC1; Oblique facial clefts; Oculomaxillofacial dysplasia with oblique facial clefts; Richieri Costa Gorlin syndrome
SNOMED CT: Richieri Costa Gorlin syndrome (763830009); Oculomaxillofacial dysostosis (763830009)
 
Gene (location): SPECC1L (22q11.23)
 
Monarch Initiative: MONDO:0015824
OMIM®: 600251
Orphanet: ORPHA1794

Definition

Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988). [from OMIM]

Clinical features

From HPO
Talipes calcaneovalgus
MedGen UID:
56270
Concept ID:
C0152237
Anatomical Abnormality
Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
Deep palmar crease
MedGen UID:
387849
Concept ID:
C1857539
Finding
Excessively deep creases of the palm.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Tessier number 4 facial cleft
MedGen UID:
1642051
Concept ID:
C4703420
Congenital Abnormality
The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.
Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculomaxillofacial dysostosis
Follow this link to review classifications for Oculomaxillofacial dysostosis in Orphanet.

Recent clinical studies

Etiology

Jin T, Liu J, Gui L, Niu F, Yu B
J Craniofac Surg 2015 Mar;26(2):373-7. doi: 10.1097/SCS.0000000000001048. PMID: 25643345
Wang J, Liu JF, Liu W, Wang JC, Wang SY, Gui L
J Craniofac Surg 2013 May;24(3):957-60. doi: 10.1097/SCS.0b013e31828691e6. PMID: 23714920
Shanske AL
AIDS 2012 Sep 10;26(14):1775-9. doi: 10.1097/QAD.0b013e328356467a. PMID: 22695300

Diagnosis

Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M
Am J Med Genet A 2016 Jun;170(6):1495-501. Epub 2016 Mar 17 doi: 10.1002/ajmg.a.37630. PMID: 26989884
Schramm C, Rohrbach JM, Reinert S, Mau-Holzmann UA, Aisenbrey S, Bartz-Schmidt KU, Besch D
Graefes Arch Clin Exp Ophthalmol 2013 Mar;251(3):959-65. Epub 2012 Nov 13 doi: 10.1007/s00417-012-2197-z. PMID: 23150045

Therapy

Shanske AL
AIDS 2012 Sep 10;26(14):1775-9. doi: 10.1097/QAD.0b013e328356467a. PMID: 22695300

Prognosis

Wang J, Liu JF, Liu W, Wang JC, Wang SY, Gui L
J Craniofac Surg 2013 May;24(3):957-60. doi: 10.1097/SCS.0b013e31828691e6. PMID: 23714920

Clinical prediction guides

Jin T, Liu J, Gui L, Niu F, Yu B
J Craniofac Surg 2015 Mar;26(2):373-7. doi: 10.1097/SCS.0000000000001048. PMID: 25643345
Schramm C, Rohrbach JM, Reinert S, Mau-Holzmann UA, Aisenbrey S, Bartz-Schmidt KU, Besch D
Graefes Arch Clin Exp Ophthalmol 2013 Mar;251(3):959-65. Epub 2012 Nov 13 doi: 10.1007/s00417-012-2197-z. PMID: 23150045

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