ablepharon macrostomia syndrome

Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). This condition primarily affects the face and skin, with rare involvement of internal organs.

Key Features:

• Absent or underdeveloped eyelids (ablepharon or microblepharon)
• Wide mouth (macrostomia)
• Facial dysmorphic features
• Rarely involves internal organs

AMS is a congenital ectodermal dysplasia, meaning it affects the development of skin and other ectodermal tissues. It is an autosomal dominant genetic disorder, which means that a single copy of the mutated gene is enough to cause the condition.

Other Reported Manifestations:

• Redundant skin
• Low-set ears
• Macrostomia
• Ambiguous genitalia
• Malar hypoplasia (underdeveloped cheekbones)
• Absent or hypoplastic nipples
• Umbilical abnormalities
• Growth retardation

AMS is an extremely rare condition, with only a few reported cases worldwide. It is often associated with other ectodermal dysplasias, such as Barber Say syndrome and Setleis syndrome.

References:

1. McCarthy and West (1977) - Original description of the syndrome 2-5. Various case reports and studies cited in search results [3][6][9]
2. Association of ablepharon, macrostomia, abnormal external ears, syndactyly of fingers [7]
3. Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia [8]
4. A rare case of an infant born with multiple congenital anomalies, including the absence of eyelids [10]
5. Autosomal-dominant mutations in gene TWIST2 cause the disease [11]
6. The condition's rarity and its diagnosis and management [12]
7. Severe vertical shortening or absence of the eyelids (ableph

Ablepharon macrostomia syndrome, also known as AMS, is a rare genetic disorder characterized by several distinct signs and symptoms.

Primary Features:

• Absent or Underdeveloped Eyelids: The most prominent feature of AMS is the absence or underdevelopment of eyelids, which can range from mild to severe.
• Wide Mouth (Macrostomia): Patients with AMS often have a wide mouth, which can be accompanied by other facial abnormalities.

Additional Features:

• Abnormal External Ears: Many individuals with AMS have abnormal external ears, including low-set ears or ears that are fused together (syndactyly).
• Skin Findings: Skin findings associated with AMS include dry and coarse skin, redundant skin folds, or other abnormalities.
• Fusion of Hands and Feet (Syndactyly): Some patients may experience fusion of the hands and feet, which can be a significant concern for mobility and dexterity.
• Growth Retardation: Growth retardation is another common feature of AMS, which can impact overall development and growth.

Other Reported Manifestations:

• Malar Hypoplasia: Some individuals with AMS may experience malar hypoplasia, which refers to underdevelopment or absence of the cheekbones.
• Absent or Hypoplastic Nipples: Absent or hypoplastic nipples are another feature associated with AMS.
• Umbilical Abnormalities: Umbilical abnormalities, such as an umbilical hernia, may also be present in some cases.

Genetic Basis:

Ablepharon macrostomia syndrome is caused by genetic mutations in the TWIST2 gene, which plays a crucial role in embryonic development. The autosomal-dominant inheritance pattern of AMS means that only one copy of the mutated gene is necessary to express the condition.

These signs and symptoms can vary in severity and presentation among individuals with ablepharon macrostomia syndrome. If you have any specific questions or concerns about this condition, please feel free to ask!

Ablepharon macrostomia syndrome can be diagnosed at birth by identification of characteristic physical findings, clinical evaluation, and genetic testing [7]. The diagnostic teams for this condition may include genetics, neurology, odontology, ophthalmology, and otolaryngology [2].

Some common tests used to diagnose ablepharon macrostomia syndrome include:

• Genetic testing: This can be done through a blood test or by analyzing DNA from a tissue sample. The TWIST2 gene is associated with this condition, and genetic testing can help confirm the diagnosis [5].
• Computerized tomography (CT) scanning: This imaging test can detect skeletal abnormalities, such as maxillary hypoplasia, which are characteristic of ablepharon macrostomia syndrome [10].
• Physical examination: A thorough physical exam by a qualified healthcare professional can identify characteristic features of the condition, such as ablepharon, macrostomia, and syndactyly [8].

It's worth noting that internal proficiency testing is conducted biannually in compliance with all CAP regulations for some tests, including genetic testing [1]. Additionally, inter-laboratory proficiency testing may be performed for certain tests to ensure accuracy and reliability.

References: [1] - Internal proficiency testing is conducted biannually in compliance with all CAP regulations. Inter-laboratory proficiency testing is performed for some tests. [2] - Diagnostic teams for Ablepharon macrostomia syndrome may include: Genetics. Neurology. Odontology. Ophthalmology. Otolaryngology ... [5] - ... macrostomía (gen TWIST2) Diagnosis of ablepharon macrostomia syndrome (TWIST2 gene). Reference Laboratory Genetics. Purpose(s): Post-natal diagnosis. Specialty ... [7] - An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of ... [8] - Apr 8, 2024 — Diagnosis. Features. General. Macrostomia; Abnormal External Ear development; Abnormal genital development; Syndactyly/camptodactyly; Redundant ... [10] - Nov 10, 2024 — How to diagnose Ablepharon-Macrostomia Syndrome (AMS)? · Computerized tomography (CT) scanning - detects skeletal abnormalities like maxillary ...

Based on the provided context, it appears that there is limited information available on the drug treatment of Ablepharon-Macrostomia Syndrome (AMS). However, I can provide some general information on the topic.

Treatment Overview According to search result [3], the management of AMS involves a multidisciplinary approach, including ophthalmic plastic and reconstructive surgery. The primary goal of surgical treatment is to preserve the cornea by early postnatal treatment with tarsorrhaphy, lid reconstruction with skin grafting, and other procedures.

Surgical Treatment Search result [7] mentions that the upper eyelids in AMS can be permanently lengthened with full-thickness skin grafts over Müller muscle. This procedure is aimed

Ablepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids, among other abnormalities. When it comes to differential diagnosis, several conditions need to be considered.

• Barber-Say syndrome: This is another rare genetic disorder that can present with similar physical findings, including macrostomia and redundant skin. However, it also involves characteristic facial features, such as a broad nose and prominent forehead [9].
• Setleis syndrome: This condition is characterized by a combination of craniofacial abnormalities, including microphthalmia (small eyes), cleft palate, and other midline defects. While it shares some similarities with AMS, the presence of eye abnormalities sets it apart [9].

It's essential to note that differential diagnosis for AMS involves a thorough clinical evaluation, taking into account the patient's medical history, physical examination findings, and laboratory results.

In terms of diagnostic criteria, ablepharon-macrostomia syndrome can be diagnosed at birth by identification of characteristic physical findings, clinical evaluation, and genetic testing [7]. However, the diagnosis may require consultation with a multidisciplinary team of specialists, including geneticists, dermatologists, and ophthalmologists.

References:

[7] - Diagnosis. Ablepharon macrostomia syndrome can be diagnosed at birth by identification of characteristic physical findings, clinical evaluation, and ... [9] - Nov 26, 2021 — Differential diagnosis. Possible considerations include. Barber-Say syndrome · Setleis syndrome. References. 1. De Maria B, Mazzanti L, Roche N ...