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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Anophthalmia plus syndrome


Other Names for this Disease

  • Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
  • Fryns anophthalmia syndrome
  • Fryns microphthalmia syndrome
  • Leichtman Wood Rohn syndrome
  • Microphthalmia with facial clefting
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of anophthalmia plus syndrome?

Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals.[1]
Last updated: 11/18/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmia plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia/Hypoplasia affecting the eye 90%
Choanal atresia 50%
Cleft palate 50%
Facial cleft 50%
Hypertelorism 50%
Low-set, posteriorly rotated ears 50%
Non-midline cleft lip 50%
Aplasia/Hypoplasia of the earlobes 7.5%
Aplasia/Hypoplasia of the sacrum 7.5%
Blepharophimosis 7.5%
Cleft eyelid 7.5%
Deviation of finger 7.5%
Iris coloboma 7.5%
Spina bifida 7.5%
Vertebral segmentation defect 7.5%
Abnormality of the genitourinary system -
Abnormality of the vertebral column -
Anophthalmia -
Autosomal recessive inheritance -
Bilateral cleft lip and palate -
Macrotia -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R. Anophthalmia-plus syndrome: A clinical report and review of the literature. Am J Med Genet. 2007; 143(A):64-68.


Other Names for this Disease
  • Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
  • Fryns anophthalmia syndrome
  • Fryns microphthalmia syndrome
  • Leichtman Wood Rohn syndrome
  • Microphthalmia with facial clefting
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.