Burn-McKeown syndrome

Burn-McKeown syndrome is a rare congenital disorder characterized by several distinct physical and auditory features.

Physical Features:

• Bilateral choanal atresia (narrowed nasal passages)
• Characteristic craniofacial dysmorphisms, including:
  • Hypertelorism (widely spaced eyes) [8]
  • Narrow palpebral fissures (small eye openings) [2]
  • Coloboma of the lower eyelids (a small notch in the lower eyelid) with presence of eyelashes medial to the defect [2, 8]
  • Prominent nasal bridge [5, 8]
• Short stature [9]

Auditory Features:

• Conductive and sensorineural hearing loss [6, 7]

Other Features:

• Structural cardiac abnormalities [6]
• Cleft lip (in some cases) [6]

Burn-McKeown syndrome is a rare disorder that affects various aspects of an individual's physical development. The characteristic features of this syndrome are essential for diagnosis and understanding the condition.

References:

[2] Description of Burn-McKeown syndrome, including its characteristic craniofacial dysmorphisms. [5] TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes Burn-McKeown syndrome. [6] Burn-McKeown syndrome is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. [7] Wieczorek D, Newman WG, Wieland ... HJ, Strom TM. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. [8] A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, ... [9] MedlinePlus Genetics: 42 Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.

Burn-McKeown syndrome, also known as facial oculo-oto-dysplasia or bilateral choanal atresia, heart defects, deafness, and dysmorphic aspect, is a rare genetic disorder. The signs and symptoms of this syndrome can vary in severity and may include:

• Bilateral choanal atresia: A congenital condition where the nasal passages are blocked on both sides.
• Hearing loss: Frequently observed in 70% of patients, with approximately 60% experiencing cleft lip/palate (uni- or bilateral).
• Cardiac defects: Approximately 30% of patients may have heart defects such as patent ductus arteriosus (PDA) [1][2].
• Mild short stature: Some individuals with Burn-McKeown syndrome may experience mild short stature.
• Congenital heart defects: Such as patent ductus arteriosus, can occur in some cases.
• Dysmorphic features: Cranio-facial dysmorphism is a characteristic feature of this syndrome [9].
• Choanal atresia: A condition where the nasal passages are blocked on one or both sides.

It's essential to note that each individual with Burn-McKeown syndrome may exhibit different symptoms, and not all individuals will experience all of these signs. If you suspect someone has this syndrome, it is crucial to consult a medical professional for an accurate diagnosis and proper care.

References: [1] Aug 1, 2016 — Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus ... [2] Dec 24, 2020 — Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects such as patent ductus arteriosus ... [3] Phenotype-Gene Relationships ; CARDIOVASCULAR. Heart ; ABDOMEN. Gastrointestinal ; GENITOURINARY. Kidneys ; SKELETAL. Feet ; NEUROLOGIC. Central Nervous System. [4] Syndrome Burn-McKeown (BMKS), also known as "facial oculo-oto-dysplasia" or "bilateral choanal atresia, heart defects, deafness and dysmorphic aspect" is a ... [5] by JAC Goos · 2017 · Cited by 13 — Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the ... [6] A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism,\nhearing loss, heart abnormalities, and short stature. (DO).

Burn-McKeown syndrome, also known as TXNL4A-related disorder, can be diagnosed through various diagnostic methods.

• Sequencing of the promotor and coding region of TXNL4A: This is a key diagnostic test for Burn-McKeown syndrome. Sequencing involves analyzing the genetic code to identify any mutations or variations in the TXNL4A gene [1].
• Targeted mutation analysis: This test focuses on identifying specific mutations in the TXNL4A gene that are associated with Burn-McKeown syndrome [5].
• Mutation scanning/screening and sequence analysis of selected exons: This diagnostic method involves analyzing specific regions (exons) of the TXNL4A gene to identify any mutations or variations [5].

These diagnostic tests can help confirm a diagnosis of Burn-McKeown syndrome in individuals with clinical signs and symptoms, as well as those with a family history of the disorder.

References: [1] - The sequencing of the promotor and coding region of TXNL4A is mentioned in search result 2 as a method to diagnose Burn-McKeown syndrome. [5] - Targeted mutation analysis, mutation scanning/screening and sequence analysis of selected exons are diagnostic methods for Burn-McKeown Syndrome (TXNL4A gene) as per search result 5.

Burn-McKeown syndrome (BMKS) is a rare congenital disorder characterized by choanal atresia, prominent ears, and abnormalities of the outer third of the lower eyelid. While there are no specific treatments mentioned in the search results for BMKS, I can provide some general information on the treatment of related conditions.

Treatment Overview

The primary goal of treatment for BMKS is to address the choanal atresia, which may involve surgical intervention. Additionally, multidisciplinary evaluation and management of associated ophthalmological, audiological, maxillofacial, and cardiac abnormalities are crucial (2).

Surgical Treatment

Surgery is required for choanal atresia, a common feature of BMKS (2). The type and extent of surgery will depend on the individual case.

• Choanal Atresia: Surgical correction of choanal atresia may involve endoscopic or open surgical techniques to establish patency of the nasal passages.
• Associated Abnormalities: Surgery may also be necessary to address associated abnormalities, such as ophthalmological, audiological, maxillofacial, and cardiac issues.

Medical Management

While there are no specific medications mentioned in the search results for BMKS, medical management may involve:

• Palliative Care: Providing supportive care to manage symptoms and improve quality of life.
• Genetic Counseling: Offering genetic counseling to families affected by BMKS (3).

It is essential to note that the material provided is not intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment (8).

References:

(2) - Surgery is required for choanal atresia. (3) - GeneReviews provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

Burn-McKeown syndrome, also known as TXNL4A-related craniofacial disorder, has a differential diagnosis that includes other genetic conditions with overlapping features.

• CHARGE syndrome: This is a rare genetic disorder that affects multiple systems in the body. It can cause similar craniofacial abnormalities and developmental delays as Burn-McKeown syndrome [1][2].
• Treacher Collins syndrome: This is another genetic condition that affects the development of facial bones and cartilage, leading to characteristic features such as underdeveloped jaw and cheekbones. Normal intellectual development is a key feature that distinguishes Treacher Collins syndrome from Burn-McKeown syndrome [3][4][5].
• Other genetic causes: The differential diagnosis for Burn-McKeown syndrome also includes other genetic conditions that can cause similar craniofacial abnormalities, such as mutations in the TXNL4A gene itself. These conditions may require further investigation and testing to confirm the diagnosis.

It's worth noting that comprehensive differential diagnostic panels have been developed for Burn-McKeown syndrome, which include 9 curated genes according to clinical signs [3]. These panels can help identify potential causes of the condition and guide further investigation.

References: [1] Context result 2 [2] Context result 5 [3] Context result 3 [4] Context result 8 [5] Context result 7