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Abnormal size of the palpebral fissures

MedGen UID:
867521
•Concept ID:
C4021904
•
Anatomical Abnormality
Synonyms: Abnormal size of the eyes; Abnormal size of the opening between the eyelids
 
HPO: HP:0200007

Definition

An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. [from HPO]

Professional guidelines

PubMed

Workflow and treatment results for computer-aided design and 3D-printed conformer therapy of congenital anophthalmia and microphthalmia.
Groot ALW, Remmers JS, Lissenberg-Witte BI, de Meulenaere STJ, Talan D, Liberton NPTJ, de Graaf P, Moll AC, Saeed P, Hartong DT
Br J Ophthalmol 2023 Sep;107(9):1239-1245. Epub 2022 Apr 27 doi: 10.1136/bjophthalmol-2021-320882. PMID: 35477668

Recent clinical studies

Etiology

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.
AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, Ammar AS
Med Arch 2023;77(4):319-322. doi: 10.5455/medarh.2023.77.319-322. PMID: 37876568Free PMC Article
Workflow and treatment results for computer-aided design and 3D-printed conformer therapy of congenital anophthalmia and microphthalmia.
Groot ALW, Remmers JS, Lissenberg-Witte BI, de Meulenaere STJ, Talan D, Liberton NPTJ, de Graaf P, Moll AC, Saeed P, Hartong DT
Br J Ophthalmol 2023 Sep;107(9):1239-1245. Epub 2022 Apr 27 doi: 10.1136/bjophthalmol-2021-320882. PMID: 35477668
Therapeutic Strategies in 103 Children with Congenital Microphthalmos.
Schittkowski MP, Martius S, Elabbasy M, Knappe S, Guthoff RF
Klin Monbl Augenheilkd 2022 Jan;239(1):64-72. Epub 2022 Feb 4 doi: 10.1055/a-1685-5002. PMID: 35120379
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
Myers L, Blyth M, Moradkhani K, Hranilović D, Polesie S, Isaksson J, Nordgren A, Bucan M, Vincent M, Bölte S, Anderlid BM, Tammimies K
Mol Genet Genomic Med 2020 Jan;8(1):e1013. Epub 2019 Nov 15 doi: 10.1002/mgg3.1013. PMID: 31730283Free PMC Article
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article

Diagnosis

Therapeutic Strategies in 103 Children with Congenital Microphthalmos.
Schittkowski MP, Martius S, Elabbasy M, Knappe S, Guthoff RF
Klin Monbl Augenheilkd 2022 Jan;239(1):64-72. Epub 2022 Feb 4 doi: 10.1055/a-1685-5002. PMID: 35120379
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article
The Down syndrome patient in dental practice, part I: Pathogenesis and general and dental features.
Kieser J, Townsend G, Quick A
N Z Dent J 2003 Mar;99(1):5-9. PMID: 15330383
Otolaryngologic manifestations of Down syndrome.
Kanamori G, Witter M, Brown J, Williams-Smith L
Otolaryngol Clin North Am 2000 Dec;33(6):1285-92. doi: 10.1016/s0030-6665(05)70281-4. PMID: 11449787

Therapy

Alcohol, marijuana, and tobacco: effects of prenatal exposure on offspring growth and morphology at age six.
Day NL, Richardson GA, Geva D, Robles N
Alcohol Clin Exp Res 1994 Aug;18(4):786-94. doi: 10.1111/j.1530-0277.1994.tb00041.x. PMID: 7526725

Prognosis

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.
AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, Ammar AS
Med Arch 2023;77(4):319-322. doi: 10.5455/medarh.2023.77.319-322. PMID: 37876568Free PMC Article
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
King-Denborough Syndrome: report of two Brazilian cases.
Reed UC, Resende MB, Ferreira LG, Carvalho MS, Diament A, Scaff M, Marie SK
Arq Neuropsiquiatr 2002 Sep;60(3-B):739-41. doi: 10.1590/s0004-282x2002000500011. PMID: 12364941
Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood?
Nokelainen P, Heiskala H, Raininko R, Autti T, Wirtavuori K, Häkkinen AM, Flint J
Am J Med Genet 2001 Oct 15;103(3):198-206. doi: 10.1002/ajmg.1536.abs. PMID: 11745991
Alcohol, marijuana, and tobacco: effects of prenatal exposure on offspring growth and morphology at age six.
Day NL, Richardson GA, Geva D, Robles N
Alcohol Clin Exp Res 1994 Aug;18(4):786-94. doi: 10.1111/j.1530-0277.1994.tb00041.x. PMID: 7526725

Clinical prediction guides

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K, Wang X, Wang WQ, Han MY, Hu LM, Kang DY, Yang JY, Liu M, Gao X, Yuan YY, Xu JC
Mol Genet Genomic Med 2023 Mar;11(3):e2103. Epub 2022 Nov 14 doi: 10.1002/mgg3.2103. PMID: 36373990Free PMC Article
Workflow and treatment results for computer-aided design and 3D-printed conformer therapy of congenital anophthalmia and microphthalmia.
Groot ALW, Remmers JS, Lissenberg-Witte BI, de Meulenaere STJ, Talan D, Liberton NPTJ, de Graaf P, Moll AC, Saeed P, Hartong DT
Br J Ophthalmol 2023 Sep;107(9):1239-1245. Epub 2022 Apr 27 doi: 10.1136/bjophthalmol-2021-320882. PMID: 35477668
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Ocular manifestations in Wolf-Hirschhorn syndrome.
Dickmann A, Parrilla R, Salerni A, Savino G, Vasta I, Zollino M, Petroni S, Zampino G
J AAPOS 2009 Jun;13(3):264-7. doi: 10.1016/j.jaapos.2009.02.011. PMID: 19541266
Otolaryngologic manifestations of Down syndrome.
Kanamori G, Witter M, Brown J, Williams-Smith L
Otolaryngol Clin North Am 2000 Dec;33(6):1285-92. doi: 10.1016/s0030-6665(05)70281-4. PMID: 11449787

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