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Marles Greenberg Persaud syndrome(MOTA)

MedGen UID:
383680
Concept ID:
C1855425
Disease or Syndrome
Synonyms: BNAR; Manitoba Oculotrichoanal Syndrome; Manitoba Trichoanal syndrome; Marles syndrome; MOTA; Unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: FREM1
Cytogenetic location: 9p22.3
OMIM: 248450

Disease characteristics

Excerpted from the GeneReview: Manitoba Oculotrichoanal Syndrome
Manitoba oculotrichoanal (MOTA) syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (ocular hypertelorism, anophthalmia/microphthalmia, cryptophthalmos, colobomas of the upper eyelid and corneopalpebral synechiae), nose (bifid or wide with a notched tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Chumei Li  |  Anne Slavotinek  |  Albert E Chudley   view full author information

Additional descriptions

From OMIM
Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cre population of Manitoba in which the syndrome was first described (summary by Slavotinek et al., 2011).  http://www.omim.org/entry/248450
From GHR
Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes. Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose). About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys. The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.  http://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome

Clinical features

Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Cleft eyelid
MedGen UID:
446370
Concept ID:
CN000587
Finding
A short discontinuity of the margin of the lower or upper eyelid.
Midline defect of the nose
MedGen UID:
428418
Concept ID:
CN003690
Finding
This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Nasolacrimal duct obstruction
MedGen UID:
504506
Concept ID:
CN000543
Finding
Blockage of the ` lacrimal duct` (FMA:61063).
Cleft eyelid
MedGen UID:
446370
Concept ID:
CN000587
Finding
A short discontinuity of the margin of the lower or upper eyelid.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054) in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Anal stenosis
MedGen UID:
505059
Concept ID:
CN001833
Finding
Abnormal narrowing of the anal opening.
Ectopic anus
MedGen UID:
505626
Concept ID:
CN003895
Finding
Abnormal displacement or malposition of the anus.
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
A midline anterior `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054) in which there is herniation of the abdominal viscera into the base of the abdominal cord.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGMarles Greenberg Persaud syndrome

Recent clinical studies

Etiology

Mateo RK, Johnson R, Lehmann OJ
Mol Vis 2012;18:1301-11. Epub 2012 May 30 PMID: 22690109Free PMC Article
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M
J Med Genet 2011 Jun;48(6):375-82. Epub 2011 Apr 20 doi: 10.1136/jmg.2011.089631. [Epub ahead of print] PMID: 21507892

Diagnosis

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A
Am J Med Genet A 2013 Mar;161A(3):473-8. Epub 2013 Feb 8 doi: 10.1002/ajmg.a.35736. [Epub ahead of print] PMID: 23401257Free PMC Article

Prognosis

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A
Am J Med Genet A 2013 Mar;161A(3):473-8. Epub 2013 Feb 8 doi: 10.1002/ajmg.a.35736. [Epub ahead of print] PMID: 23401257Free PMC Article

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