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Anophthalmia plus syndrome

MedGen UID:
322166
Concept ID:
C1833339
Disease or Syndrome
Synonyms: Fryns anophthalmia syndrome; FRYNS MICROPHTHALMIA SYNDROME; MICROPHTHALMIA WITH FACIAL CLEFTING
SNOMED CT: Anophthalmia plus syndrome (720496006); Fryns microphthalmia syndrome (720496006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0010930
OMIM®: 600776
Orphanet: ORPHA1104

Definition

A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. [from SNOMEDCT_US]

Clinical features

From HPO
Unilateral aplasia of the mullerian ducts
MedGen UID:
78600
Concept ID:
C0266389
Congenital Abnormality
A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Neural tube defect
MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.
Bilateral cleft lip
MedGen UID:
451046
Concept ID:
C0392005
Congenital Abnormality
A non-midline cleft of the upper lip on the left and right sides.
Tessier cleft
MedGen UID:
146898
Concept ID:
C0685787
Congenital Abnormality
A congenital malformation with a cleft (gap or opening) in the face.
Bilateral cleft palate
MedGen UID:
765998
Concept ID:
C3553084
Finding
Nonmidline cleft palate on the left and right sides.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Absence of the globe or eyeball.
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  
  • CROGVAnophthalmia plus syndrome
Follow this link to review classifications for Anophthalmia plus syndrome in Orphanet.

Recent clinical studies

Etiology

Mathison DJ, Troy A, Levy M
Pediatr Emerg Care 2012 Dec;28(12):1369-73. doi: 10.1097/PEC.0b013e318276c33b. PMID: 23222105
Ozalp O, Ozcimen EE, Yilmaz Z, Yanik F, Sahin FI
Genet Couns 2008;19(1):43-6. PMID: 18564500

Diagnosis

Bozkurt O, Bidev D, Sari FN, Dizdar EA, Ulu HO, Uras N, Oguz SS, Canpolat FE, Dilmen U
Genet Couns 2014;25(4):395-8. PMID: 25804017
Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A
Genet Couns 2013;24(3):307-12. PMID: 24341146
Mathison DJ, Troy A, Levy M
Pediatr Emerg Care 2012 Dec;28(12):1369-73. doi: 10.1097/PEC.0b013e318276c33b. PMID: 23222105
Ozalp O, Ozcimen EE, Yilmaz Z, Yanik F, Sahin FI
Genet Couns 2008;19(1):43-6. PMID: 18564500
Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R
Am J Med Genet A 2007 Jan 1;143A(1):64-8. doi: 10.1002/ajmg.a.31566. PMID: 17152069

Therapy

Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A
Genet Couns 2013;24(3):307-12. PMID: 24341146
Mathison DJ, Troy A, Levy M
Pediatr Emerg Care 2012 Dec;28(12):1369-73. doi: 10.1097/PEC.0b013e318276c33b. PMID: 23222105

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