Donnai-Barrow syndrome

Donnai-Barrow syndrome is a rare, inherited disorder that affects many parts of the body. The condition is characterized by unusual facial features, including:

• Prominent, wide-set eyes with outer corners that point downward
• A short bulbous nose with a flat nasal bridge
• Ears that are rotated backward
• A widow's peak hairline

Individuals with Donnai-Barrow syndrome also experience severe hearing loss due to abnormalities of the inner ear (sensorineural hearing loss) [7]. Additionally, they may have vision problems and an absent or underdeveloped corpus callosum, which is the tissue connecting the left and right halves of the brain [2].

The facial features associated with Donnai-Barrow syndrome are often described as typical craniofacial features, including large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose [10].

Overall, Donnai-Barrow syndrome is a complex condition that affects multiple systems of the body.

Donnai-Barrow syndrome (DBS) is a rare genetic disorder characterized by multiple congenital malformations, including distinctive facial features and ocular anomalies.

Facial Features

• Wide-set eyes with outer corners that point downward [1]
• Short nose [4][5]
• Flat nasal bridge [5]
• Ears rotated backward [8]
• Widow's peak hairline [8]

Ocular Anomalies

• Myopia (nearsightedness) [9]
• Iris hypoplasia (underdeveloped iris) [9]
• Retinal detachment [9]

Other Symptoms

• Severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss) [7]
• Abnormality of head or neck, including broad nasal tip and midface retrusion [5]
• Presence of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, and eye anomalies [6]

It's worth noting that the severity and presentation of DBS can vary among affected individuals.

Donnai-Barrow syndrome (DBS) is a rare genetic disorder that affects multiple parts of the body. Diagnostic tests for DBS are crucial in establishing an accurate diagnosis and ruling out other conditions.

Clinical Features and Pattern of Malformations

The diagnosis of DBS is established in a proband with characteristic clinical features and a distinctive pattern of malformations [1]. This includes facial dysmorphism, ocular findings, hearing impairments, and other congenital anomalies [6].

Molecular Genetic Testing

The diagnosis of DBS is confirmed by molecular genetic testing [2]. This test helps identify the specific genetic mutations responsible for the condition.

Next Generation Sequencing (NGS) Test

A next-generation sequencing (NGS) test is also available for individuals with clinical signs and symptoms, suspicion of, or family history of DBS [4]. This test can help identify the underlying genetic cause of the condition.

Other Diagnostic Tests

Specialists may suggest specific genetic testing or other types of tests to help reach a diagnosis [7]. These tests may include imaging studies, such as ultrasound or MRI, to evaluate the extent of malformations and rule out other conditions.

Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information on genetic tests available for DBS, including the Donnai-Barrow syndrome test [9].

In summary, diagnostic tests for Donnai-Barrow syndrome include:

• Molecular genetic testing to confirm the diagnosis
• Next-generation sequencing (NGS) test to identify underlying genetic mutations
• Imaging studies to evaluate malformations and rule out other conditions
• Genetic testing registry information to guide testing decisions

References: [1] M Longoni · 2018 · Cited by 26 — The diagnosis of Donnai-Barrow syndrome (DBS) is established in a proband with the characteristic clinical features and a distinctive pattern of ... [2] The diagnosis is confirmed by molecular genetic testing. [4] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of ... [6] Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing. [7] Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. [9] Apr 1, 2013 — Genetic Testing Information. • Genetic Testing Registry: Donnai-Barrow syndrome (https://www.ncbi.nlm.nih.gov/g tr/conditions/C1857277 ...

Donnai-Barrow syndrome, also known as CDH1-related disorder, is a rare genetic condition that affects multiple systems in the body. While there is no cure for this syndrome, various treatments can help manage its symptoms.

Medications:

• Prophylactic treatment with peripheral barrier photocoagulation may be effective in preventing retinal detachment [2].
• Many different Anti-Epileptic Drugs (AEDs) may be effective in managing seizures associated with the condition; however, none has been shown to be specifically effective for this disorder [6].

Other Interventions:

• Corrective lenses and hearing aids or cochlear implants may be required to address vision and hearing impairments [3].
• Surgery may be necessary to correct hernias, cataracts, and retinal detachments that can occur in individuals with Donnai-Barrow syndrome [10].

Important Considerations:

• Treatment for Donnai-Barrow syndrome is directed at managing specific symptoms rather than curing the condition itself.
• Consultation with a healthcare professional is essential to determine the best course of treatment for an individual's unique needs.

References:

[1] - There is no cure for Donnai-Barrow syndrome. Treatment for the condition is directed at managing an individual's specific symptoms. Common interventions may ... [2] by M Longoni · 2018 · Cited by 26 — Prophylactic treatment with peripheral barrier photocoagulation to prevent retinal detachment has been successful in several individuals. [3] Corrective lenses, preventive treatment for retinal detachment, and hearing aids and/or cochlear implants may be required. CDH and/or omphalocele, when present, ... [6] Many different AEDs may be effective; none has been shown effective specifically for this disorder. Hypovitaminoses, Supplementation as needed, Monitoring of ... [10] There is no treatment for the syndrome itself, but surgery for the hernias, cataracts, and retinal detachments may need to be done. Hearing aids can be helpful ...

Donnai-Barrow syndrome (DBS) has a characteristic constellation of clinical features that can help limit differential diagnoses. However, some overlapping signs are present with other syndromes, making differential diagnosis challenging.

Conditions to Consider in Differential Diagnosis:

• Facio-oculo-acoustico-renal (FOAR) syndrome: This syndrome shares similar clinical features with DBS, including craniofacial anomalies and ocular complications.
• Congenital diaphragmatic hernia (CDH): CDH can present with similar symptoms to DBS, such as respiratory distress and feeding difficulties.
• Fryns syndrome: This rare genetic disorder is characterized by craniofacial anomalies, including hypertelorism and low-set ears, which are also present in DBS.
• Pallister-Hall syndrome: This syndrome is associated with congenital diaphragmatic hernia, polydactyly, and other malformations that can be similar to those seen in DBS.

Key Features for Differential Diagnosis:

• Presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies are key distinguishing features between DBS and FOAR syndrome.
• High-grade myopia, deafness, and low molecular weight proteinuria are characteristic features of DBS that can help differentiate it from other syndromes.

Consultation with a Clinical Genetic Specialist:

To accurately diagnose Donnai-Barrow syndrome, it is essential to consult with a clinical genetic specialist who can evaluate the individual's medical history, physical examination findings, and laboratory results. A comprehensive evaluation by a specialist can help rule out other conditions and confirm the diagnosis of DBS.

References:

• [1] Pober BR, Longoni M, Noonan KM. Review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81.
• [4] Pober BR, Longoni M, Noonan KM. Review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81.
• [11] Kantarci S, Ragge NK, et al. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.