Anophthalmia plus syndrome

A very rare multiple congenital anomaly syndrome characterized by the presence 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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 10 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.8%)		 17152069
 Anophthalmia-plus syndrome: a clinical report and review of the literature.
Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R.
Am J Med Genet A. 2007;143A(1):64-8.
Blepharophimosis Lipoma
Anophthalmos Cerebral Ventricles Echoencephalography Homo sapiens Infant Magnetic Resonance Imaging Male Syndrome
2
(34.4%)		 8533799
 Apparently new "anophthalmia-plus" syndrome in sibs.
Fryns JP, Legius E, Moerman P, Vandenberghe K, Van den Berghe H.
Am J Med Genet. 1995;58(2):113-4.
Macrotia Bilateral cleft lip
Anophthalmos Child, Preschool Females Genes, Recessive Homo sapiens Magnetic Resonance Imaging Male Pregnancy
3
(32.1%)		 18452356
 Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?
Ozcelik D, Saglam I, SIlan F, Sezen G, Unveren T.
Cleft Palate Craniofac J. 2008;45(3):256-60.
Anophthalmia Cleft lip
Anophthalmos Child, Preschool Cleft Palate Homo sapiens Intellectual Disability Male Syndrome
4
(22.8%)		 21675878
 Fryns anophthalmia-plus syndrome in an 18-week-old fetus.
Jayasinghe C, Gembruch U, Kuchelmeister K, Korber F, Muller AM.
Pediatr Dev Pathol. 2012;15(1):58-61.
Low-set ears Talipes
Abortion, Eugenic Adult Anophthalmos Females Fetal Diseases Fetus Gestational Age Homo sapiens Male Pregnancy
5
(17.5%)		 24341146
 Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.
Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A.
Genet Couns. 2013;24(3):307-12.
Low-set ears Scarring
Anophthalmos Arnold Chiari Malformation Child, Preschool Developmental Disabilities Homo sapiens Hypothyroidism Male
6
(4.0%)		 25804017
 Fryns anophthalmia-plus syndrome: two rare cases.
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.
Low-set ears
Anophthalmos Cecum Females Homo sapiens Infant, Newborn
6
(4.0%)		 18564500
 Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands.
Ozalp O, Ozcimen EE, Yilmaz Z, Yanik F, Sahin FI.
Genet Couns. 2008;19(1):43-6.
Anophthalmia
Adrenal Glands Adult Anophthalmos Cleft Palate Females Fetal Diseases Genetic Counseling Homo sapiens Pregnancy Pregnancy Trimester, Second Syndrome
6
(4.0%)		 16080293
 A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioglu E, Yalciner M, Cetinkaya E, Fryns JP, Tukun A.
Genet Couns. 2005;16(2):145-8.
Primary hypothyroidism
Anophthalmos Chromosome Aberrations Craniofacial Abnormalities Genes, Recessive Homo sapiens Hypoparathyroidism Infant, Newborn Male Phenotype Syndrome
6
(4.0%)		 12514364
 Fryns "Anophthalmia-Plus" syndrome associated with developmental regression.
Wiltshire E, Moore M, Casey T, Smith G, Smith S, Thompson E.
Clin Dysmorphol. 2003;12(1):41-3.
Microphthalmia
Anophthalmos Child, Preschool Cleft Palate Developmental Disabilities Homo sapiens Male Nose
6
(4.0%)		 9375920
 Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.
Warburg M, Jensen H, Prause JU, Bolund S, Skovby F, Miranda MJ.
Am J Med Genet. 1997;73(1):36-40.
Anophthalmia
Anophthalmos Cleft Palate Face Females Homo sapiens Infant Microphthalmos Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000528 Anophthalmia Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000453 Choanal atresia Frequent (79-30%)
HP:0002006 Facial cleft Frequent (79-30%)
HP:0002744 Bilateral cleft lip and palate Frequent (79-30%)
HP:0005105 Abnormal nasal morphology Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0000581 Blepharophimosis Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000625 Eyelid coloboma Occasional (29-5%)
HP:0002414 Spina bifida Occasional (29-5%)
HP:0003422 Vertebral segmentation defect Occasional (29-5%)
HP:0004097 Deviation of finger Occasional (29-5%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000528 Anophthalmia 2
HP:0000568 Microphthalmia 1
HP:0000639 Nystagmus 1
HP:0000832 Primary hypothyroidism 1
HP:0002376 Developmental regression 1
HP:0011787 Central hypothyroidism 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID