Background: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. [ingentaconnect.com]

He presented at 18 mo of age with fever, polyuria, vomiting, and chronic constipation. Weight was 4.6 kg (−6.7 SD), length 65 cm (−7.02 SD) and head circumference 42 cm (−4.2 SD). [link.springer.com]

Reyes (2004) presents a deafblindness classification into four groups. [scirp.org]

Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.[7829] Synonyms [rarediseases.org]

Cataracts and maldevelopment of the retina (macula) may be present. The iris may resemble a keyhole (coloboma) and often has a decreased amount of pigment. Genetics: This is an autosomal recessive disorder requiring the presence of two mutations. [disorders.eyes.arizona.edu]

• Disability

  View the complete list with 153 more genes Specificity 1 % Genes 100 % Autosomal Recessive Non-Specific Intellectual Disability Panel. By Genetic Services Laboratory University of Chicago (United States). [mendelian.co]

  Only students with multiple disabilities participate in the inclusion process. [scirp.org]

  Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [rarediseases.oscar.ncsu.edu]

  […] associations Type phenotype Description Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability [maayanlab.cloud]

  ={93 - 95} } Donnai-Barrow or facio-oculo-acoustico-renal (DB/FOAR) syndrome is characterized by typical craniofacial features, ocular findings, sensorineural hearing loss and agenesis of the corpus callosum along with varying degree of intellectual disability [semanticscholar.org]

• Developmental Delay

  Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. [rarediseases.org]

  Many have developmental delays and a few cases have had seizures. Some brain structures such as the corpus callosum (which connects the two halves of the brain) may be missing. There are often hernias of the diaphragm and the umbilicus. [disorders.eyes.arizona.edu]

  Omphalocele (exomphalos), intestinal malrotation, absent corpus callosum, severe myopia (15-20 diopters), iris coloboma, retinal detachment, sensorineural deafness, and variable degree of developmental delay are characteristics of this syndrome. [accessanesthesiology.mhmedical.com]

  delay Partial agenesis of the corpus callosum Seizure Ear malformation Hearing impairment Low-set ears Posteriorly rotated ears Sensorineural hearing loss disorder IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it [ncbi.nlm.nih.gov]

• Epilepsy

  OMIM ORPHANET MESH Rare Disease Search Engine If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOCLONIC-ATONIC EPILEPSY; MAE NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE [mendelian.co]

• Strabismus

  Kerkouri, Primary Palpebral Tuberculosis: A Case Report, European Journal of Medical and Health Sciences: Vol. 3 No. 1 (2021) Ismail Essamlali, Rokaya Chahir, Ghizlane Daghouj, Loubna Elmaaloum, Bouchra Allali, Asmaa Elkettani, Myelin Fiber Syndrome, Strabismus [ejmed.org]

• Low Set Ears

  […] malformation Hearing impairment Low-set ears Posteriorly rotated ears Sensorineural hearing loss disorder IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate [ncbi.nlm.nih.gov]

  Clinical Findings: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism. [ingentaconnect.com]

  ears Depressed nasal bridge And another 49 symptoms. [mendelian.co]

• Hypertelorism

  NM_004525.3:c.7564T>C Homozygous Autosomal, Recessive Charlton et al. 2020 222448.3.2 United Arab Emirates Female Yes Yes Hypertelorism; Abnormal facial shape; Hi... [cags.org.ae]

  Genetic disorder responsible for diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, eye anomalies, and sensorineural deafness. Six cases have been reported since its first description by Donnai and Barrow in 1993. [accessanesthesiology.mhmedical.com]

  Alternative names Donnai-barrow Syndrome Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness, diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria, foar [mendelian.co]

  Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary [rarediseases.oscar.ncsu.edu]

• Depressed Nasal Bridge

  nasal bridge, and short nose. [ncbi.nlm.nih.gov]

  nasal bridge And another 49 symptoms. [mendelian.co]

  Depressed nasal bridge Concave nasal bridge, Low nasal root, Retruded bridge of nose, Flat nasal bridge, Concave bridge of nose, Retruded nasal bridge, Flat bridge of nose, Depressed bridge of nose, Depressed nasal root/bridge, Depressed nasal root, Flat [rarediseases.oscar.ncsu.edu]

  On examination, he had large anterior fontanelle, V-shaped hairline at center of forehead (widow’s peak), wide metopic suture, hypertelorism, iris coloboma, down slanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge with broad tip [link.springer.com]

  Figure 1: Facial features of the index patient with Donnai-Barrow syndrome, indicating hypertelorism and depressed nasal bridge Click here to view The vital signs were within normal limits. [ajpn-online.org]

• Bulbous Nose

  In addition, DBS is characterized by facial dysmorphism, including severe hypertelorism with downslanting palpebral fissures, short bulbous nose, and posteriorly rotated ears. [cags.org.ae]

  Bulbous nose Bulbous nasal tip, Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose. [rarediseases.oscar.ncsu.edu]

  This disorder 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; and a widow's peak hairline. [medlineplus.gov]

  Presentation[edit] This disorder 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; and a widow's peak [en.wikipedia.org]

• Large Anterior Fontanels

  Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed [ncbi.nlm.nih.gov]

  On examination, he had large anterior fontanelle, V-shaped hairline at center of forehead (widow’s peak), wide metopic suture, hypertelorism, iris coloboma, down slanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge with broad tip [link.springer.com]

  DBS/FOAR is characterized by specific facial features such as a V-shaped point in the hairline in the middle of the forehead (Widow’s peak), large anterior fontanelle, wide metopic suture, posteriorly rotated ears, down slanted palpebral fissures, hypertelorism [cureus.com]

• Global Developmental Delay

  developmental delay Partial agenesis of the corpus callosum Seizure Ear malformation Hearing impairment Low-set ears Posteriorly rotated ears Sensorineural hearing loss disorder IMPORTANT NOTE: NIH does not independently verify information submitted [ncbi.nlm.nih.gov]

  Male Yes Yes Global developmental delay; Hearing impa... NM_004525.3:c.7564T>C Homozygous Autosomal, Recessive Khan and Ghazi, 2018 Double cousin of 222... 222448.3.1 United Arab Emirates Female Yes Yes Hypertelorism; Abnormal facial shape; Hi... [cags.org.ae]

  Genes related to Donnai-barrow Syndrome LRP2 View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Donnai-barrow Syndrome Intellectual disability Seizures Global developmental delay Hearing impairment Scoliosis [mendelian.co]

  Case Presentation Case 1 A 14-month-old female child with a history of global developmental delay, dysmorphic features (hypertelorism, proptosis, ptosis, micrognathia), and amblyopia was referred to our hospital, King Abdulaziz University Hospital, Riyadh [cureus.com]

Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.[7829] Synonyms [rarediseases.org]

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 and seizure medicines may be required. [disorders.eyes.arizona.edu]

Practice Recommendations: Early recognition and diagnosis of genetic syndromes can improve family education and guide treatment interventions. An underlying syndrome should be suspected when an infant presents with multiple congenital defects. [ingentaconnect.com]

Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities. [rareguru.com]

The investigators hope that the information gained by studying the metabolism of children with Donnai-Barrow Syndrome and their family members will lead to significant advances in the treatment of this disease. [clinicaltrials.gov]

Diagnosis and Prognosis: The diagnosis is often made by a pediatrician or medical geneticist and may be confirmed by an ophthalmologist. [disorders.eyes.arizona.edu]

ECMO is the ultimate bridging management for refractory cases; however, the prognosis is unfavorable for patients with severely hypoplastic lungs and pulmonary vasculature. The size of the omphalocele is usually moderate. [accessanesthesiology.mhmedical.com]

This condition is not life-threatening, but the functional prognosis depends on the degree of visual and hearing handicap. Mutations in the LRP2 gene are known to cause Donnai-Barrow syndrome. [cags.org.ae]

(December 2017) Epidemiology[edit] Donnai–Barrow syndrome appears to be a rare disorder. A few dozen affected individuals have been reported in many regions of the world.[3][4] References[edit] ^ Donnai, D; Barrow, M (1993). [en.wikipedia.org]

Pathophysiology The precise mechanism resulting in the findings of this syndrome remains to be determined. Diagnosis Pregnancy may be complicated by polyhydramnios, and prenatal diagnosis can be made by ultrasonography. [accessanesthesiology.mhmedical.com]

Any surgery should be preceded by optimization of the infant's volume and electrolyte status, intensive respiratory care, and prevention of further intrathoracic distension of bowel loops by permanent low suction through a gastric tube. [accessanesthesiology.mhmedical.com]