Marles Greenberg Persaud Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

MANITOBA OCULOTRICHOANAL SYNDROME, MARLES SYNDROME, MOTA

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Introduction

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

100 Clinical Results associated with Marles Greenberg Persaud Syndrome

100 Translational Medicine associated with Marles Greenberg Persaud Syndrome

0 Patents (Medical) associated with Marles Greenberg Persaud Syndrome

Literatures (Medical) associated with Marles Greenberg Persaud Syndrome

02 Nov 2023·Ophthalmic Genetics

Cryptophthalmos: associated syndromes and genetic disorders

Article

Author: Bautista, Sana ; Landau-Prat, Daphna ; Katowitz, James A ; Revere, Karen E ; Kim, Diana H ; Katowitz, William R ; Strong, Alanna

PURPOSECryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis.METHODSWe performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results.RESULTSThirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1).CONCLUSIONThis is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.

01 Jun 2023·BMJ Case Reports

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2

Article

Author: Mwipopo, Ernestina ; Manji, Karim Premji ; Moshiro, Robert ; Massomo, Mariam Mngoya

A male baby with bilateral cryptophthalmos without eyebrows, distorted anterior hairline, bifid nasal tip, low-set ears, hypertelorism and low anorectal anomaly who was phenotypically diagnosed with Manitoba oculo-tricho-anal syndrome (mutation inFREM1gene) had an overlapping genotypic diagnosis of autosomal recessive Fraser syndrome 2 because of the presence of a closely related mutation inFREM2. This heterozygous variant was likely to be sporadic. Another mutation was identified in theCEP85Lgene indicating lissencephaly 10. This genetic condition has abnormal gyri pattern in the occiput area. This form of lissencephaly is characterised by phenotypic heterogeneity whereby some patients have only mild mental retardation, while others have a very complex clinical picture.In conclusion, this rare condition with the overlap of genetics between several conditions highlights the need for genetic testing even in an low middle income country (LMIC).

01 Jan 2023·Clinical Dysmorphology

Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes

Article

Author: Gazzaz, Bouchaib ; Lehlimi, Mouna ; Dehbi, Hind ; Tazzite, Amal ; Berrada, Sarah ; Bouzroud, Wafaa

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Marles Greenberg Persaud Syndrome

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