Donnai-Barrow syndrome

* This composite image of Donnai-Barrow Syndrome was created to help geneticists get a better analysis

What is Donnai-Barrow syndrome?

It is a rare genetic condition that affects multiple parts and systems of the body including the brain, ears, face, eyes, and internal organs. It is believed to affect less than 50 individuals globally.

Syndrome Synonyms:
DBS/FOAR Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria; Faciooculoacousticorenal Syndrome FOAR

What gene change causes Donnai-Barrow syndrome?

Mutations to the LRP2 gene are responsible for the syndrome. It is inherited in an autosomal recessive pattern.

What are the main symptoms of Donnai-Barrow syndrome?

Facial features of the syndrome include wide-set eyes, a short and bulbous nose, a flat nasal bridge, ears rotated backward, and a widow’s peak hairline. Hearing loss due to anomalies in the inner ear, as well as vision problems, are common. Some individuals have a split in the iris (the colored part of the eye).

Often individuals with the syndrome have missing tissue connecting the left and right parts of their brain (absent corpus callosum). This causes mild to moderate intellectual disability and developmental delay.

Other potentially serious symptoms include a congenital diaphragmatic hernia, this is a hole in the muscle separating the abdomen from the diaphragm. This hernia can lead the stomach to move into the chest and intestines, crowding the developing heart and lungs

Possible clinical traits/features:
Congenital diaphragmatic hernia, Retinal detachment, Chorioretinal coloboma, Downslanted palpebral fissures, Diaphragmatic eventration, Malar flattening, Retinal dystrophy, Broad nasal tip, Cataract, Abnormality of the fontanelles or cranial sutures, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Umbilical hernia, Proptosis, Midface retrusion, Infra-orbital crease, Macrocephaly, High myopia, Myopia, Short nose, Iris coloboma, Abnormal morphology of female internal genitalia, Low-set, posteriorly rotated ears, Low-molecular-weight proteinuria, Low-set ears, Intestinal malrotation, Hypertelorism, Cognitive impairment, Global developmental delay, Bicornuate uterus, Hypoplasia of the iris, Broad forehead, High anterior hairline, Depressed nasal bridge, Visual impairment, Seizure, Non-acidotic proximal tubulopathy, Sensorineural hearing impairment, Omphalocele, Posteriorly rotated ears, Autosomal recessive inheritance, Proteinuria, Progressive visual loss, Wide anterior fontanel, Partial or complete agenesis of corpus callosum.

How is Donnai-Barrow syndrome diagnosed?

To find out if someone has a diagnosis of Donnai-Barrow syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

* This composite image of Donnai-Barrow Syndrome was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more