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Disease Profile

Abruzzo-Erickson syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CHARGE like syndrome X-linked

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Kidney and Urinary Diseases;

Summary

Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palatecoloboma, hypospadius, deafness, short stature, and radioulnar synostosis.[1] Although the underlying cause of the condition is still being studied, it appears to result, at least in part, from mutations in the TBX22 gene.[1][2][3] The condition is inherited in an X-linked recessive manner.[1][2] Treatment is generally aimed at addressing the symptoms present in each individual.

Symptoms

Abruzzo-Erickson syndrome is characterized by an opening in the roof of the mouth (cleft palate), a gap or split in the structures that make up the eye (ocular coloboma), abnormal location for the opening of the urethra on the penis (hypospadius), mixed conductive-sensorineural hearing loss, short stature, and an abnormal fusion of the bones of the forearm (radioulnar synostosis). Additional features may include:[1][2] 

  • large and protruding ears
  • wide spacing between the second and third fingers
  • fingers that are angled outward toward the fifth finger (ulnar deviation)
  • a slight difference in the size and shape of the right and left sides of the face (facial asymmetry)
  • dental abnormalities
  • congenital heart malformation (such as atrial septal defect)

These symptoms overlap with those seen in CHARGE syndrome, however, unlike those with CHARGE syndrome, individuals with Abruzzo-Erickson syndrome do not have intellectual disability, a narrowing or blockage of the nasal airway (choanal atresia) or underdevelopment of the genitals (genital hypoplasia).[1][2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Coronal hypospadias
0008743
Flat face
Flat facial shape
0012368
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
30%-79% of people have these symptoms
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Iris coloboma
Cat eye
0000612
Radioulnar synostosis
Fused forearm bones
0002974
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Ulnar deviation of finger
Finger bends toward pinky
0009465
5%-29% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Brachydactyly
Short fingers or toes
0001156
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin

[ more ]

0010751
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Short toe
Short toes
Stubby toes

[ more ]

0001831
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Percent of people who have these symptoms is not available through HPO
Coloboma
Notched pupil
0000589
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypospadias
0000047
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
X-linked inheritance
0001417

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Abruzzo-Erickson syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

References

  1. Abruzzo M. Abruzzo-Erickson syndrome. Orphanet. July 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921.
  2. ABRUZZO-ERICKSON SYNDROME; ABERS. Online Mendelian Inheritance in Man (OMIM). May 9, 2013; https://www.omim.org/entry/302905.
  3. Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P. X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.. Clin Genet. 2013 Apr; 83(4):352-8. https://www.ncbi.nlm.nih.gov/pubmed/22784330.

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