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Craniofacial anomalies and anterior segment dysgenesis syndrome(CAASDS)

MedGen UID:
481729
Concept ID:
C3280099
Disease or Syndrome
Synonym: CAASDS
 
Gene (location): VSX1 (20p11.21)
 
Monarch Initiative: MONDO:0013618
OMIM®: 614195

Clinical features

From HPO
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Severe sensorineural hearing impairment
MedGen UID:
867175
Concept ID:
C4021533
Disease or Syndrome
A severe form of sensorineural hearing impairment.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Nasofrontal encephalocele
MedGen UID:
488902
Concept ID:
C0431291
Congenital Abnormality
Posterior fossa cyst
MedGen UID:
341753
Concept ID:
C1857353
Finding
A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Small pituitary gland
MedGen UID:
868479
Concept ID:
C4022873
Anatomical Abnormality
An abnormally decreased size of the pituitary gland.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Anterior synechiae of the anterior chamber
MedGen UID:
488783
Concept ID:
C0152252
Disease or Syndrome
Adhesions between the iris and the cornea.
Band-shaped keratopathy
MedGen UID:
56354
Concept ID:
C0155120
Disease or Syndrome
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Congenital underdevelopment of the iris.
Abnormal electroretinogram
MedGen UID:
96908
Concept ID:
C0476397
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Anterior segment dysgenesis
MedGen UID:
350766
Concept ID:
C1862839
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Some patients with ASGD1 have been reported with the Peters anomaly subtype. In its simplest form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

Recent clinical studies

Etiology

Faaij MJ, van der Kaaij NCW, Disse MA, Don Griot JPW, Vermeij-Keers C, Bronkhorst EM, Ongkosuwito EM
Clin Oral Investig 2022 Jun;26(6):4623-4632. Epub 2022 Mar 22 doi: 10.1007/s00784-022-04431-y. PMID: 35316411
French CR
Int J Mol Sci 2021 Sep 16;22(18) doi: 10.3390/ijms221810001. PMID: 34576164Free PMC Article
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Chang TC, Summers CG, Schimmenti LA, Grajewski AL
Br J Ophthalmol 2012 Mar;96(3):318-22. Epub 2011 Dec 23 doi: 10.1136/bjophthalmol-2011-300801. PMID: 22199394
Johnston MC, Bronsky PT
Crit Rev Oral Biol Med 1995;6(1):25-79. doi: 10.1177/10454411950060010301. PMID: 7632866

Diagnosis

Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279
Happ H, Schilter KF, Weh E, Reis LM, Semina EV
Am J Med Genet A 2016 Sep;170(9):2471-5. Epub 2016 Jul 5 doi: 10.1002/ajmg.a.37840. PMID: 27378168Free PMC Article
Brandt T, Strupp M, Dieterich M
J Neurol 2016 Apr;263 Suppl 1:S90-6. Epub 2016 Apr 15 doi: 10.1007/s00415-015-7973-3. PMID: 27083889Free PMC Article
Chang TC, Summers CG, Schimmenti LA, Grajewski AL
Br J Ophthalmol 2012 Mar;96(3):318-22. Epub 2011 Dec 23 doi: 10.1136/bjophthalmol-2011-300801. PMID: 22199394

Therapy

Shahraki K, Hakimeh C, Suh DW
J AAPOS 2023 Dec;27(6):354-357. Epub 2023 Sep 22 doi: 10.1016/j.jaapos.2023.07.015. PMID: 37741493
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Brandt T, Strupp M, Dieterich M
J Neurol 2016 Apr;263 Suppl 1:S90-6. Epub 2016 Apr 15 doi: 10.1007/s00415-015-7973-3. PMID: 27083889Free PMC Article
Waldron JM, McNamara C, Hewson AR, McNamara CM
Spec Care Dentist 2010 Sep-Oct;30(5):218-22. Epub 2010 Aug 17 doi: 10.1111/j.1754-4505.2010.00153.x. PMID: 20831741

Prognosis

Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. PMID: 36892533Free PMC Article
Pirih FQ, Casarin M, Perussolo J, Ozaki M, Carnio JG, Camargo PM, Galvan M
Clin Adv Periodontics 2019 Dec;9(4):172-176. Epub 2019 Aug 8 doi: 10.1002/cap.10065. PMID: 31490031
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS
Am J Hum Genet 2014 May 1;94(5):755-9. Epub 2014 Apr 24 doi: 10.1016/j.ajhg.2014.04.002. PMID: 24768550Free PMC Article
Liu Y, Semina EV
PLoS One 2012;7(1):e30896. Epub 2012 Jan 27 doi: 10.1371/journal.pone.0030896. PMID: 22303467Free PMC Article
Waldron JM, McNamara C, Hewson AR, McNamara CM
Spec Care Dentist 2010 Sep-Oct;30(5):218-22. Epub 2010 Aug 17 doi: 10.1111/j.1754-4505.2010.00153.x. PMID: 20831741

Clinical prediction guides

Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):19. doi: 10.1167/iovs.64.3.19. PMID: 36892533Free PMC Article
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Happ H, Schilter KF, Weh E, Reis LM, Semina EV
Am J Med Genet A 2016 Sep;170(9):2471-5. Epub 2016 Jul 5 doi: 10.1002/ajmg.a.37840. PMID: 27378168Free PMC Article
Liu Y, Semina EV
PLoS One 2012;7(1):e30896. Epub 2012 Jan 27 doi: 10.1371/journal.pone.0030896. PMID: 22303467Free PMC Article
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

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