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midface dysplasia
ICD-10 Codes
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Description
Midface dysplasia, also known as midfacial hypoplasia, is a rare developmental anomaly characterized by underdevelopment or malformation of the upper jaw, cheekbones, and eye sockets.
Key Features:
- Underdeveloped or malformed upper jaw (maxilla)
- Hypertelorism (widely spaced eyes)
- Wide nose
- Vertical midline cleft (a groove on the tip of the nose)
- Unusually wide mouth
- Sunken-in midface
- Short, flattened nose
- Recessed upper jaw
- Protruding lower jaw
Other Associated Features:
- Clefts of the lip and palate
- Abnormal dentition
- Encephalocele (a rare condition where brain tissue protrudes through a defect in the skull)
These features can vary in severity and may be accompanied by other symptoms, such as sleep apnea or breathing difficulties.
References: 1. [3] Patients with this syndrome have abnormal facial features--namely, clefts of the lip and palate--and abnormal dentition, which could affect the growth of their midface. 2. [5] Midface hypoplasia is the main feature in Pfeiffer syndrome that predisposes patients to OSAS (Obstructive Sleep Apnea Syndrome). 3. [6] Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, and other facial abnormalities. 4. [7] Fibrous dysplasia is characterized by excessive proliferation of bone-forming mesenchymal cells, which can lead to malformation of the midface. 5. [8] Recognizable characteristics include a sunken-in midface, short, flattened nose, recessed upper jaw, and protruding lower jaw.
Please note that these features may not be present in every individual with midface dysplasia, and the severity of symptoms can vary widely.
Additional Characteristics
- Underdeveloped or malformed upper jaw (maxilla)
- Hypertelorism (widely spaced eyes)
- Wide nose
- Vertical midline cleft (a groove on the tip of the nose)
- Unusually wide mouth
- Sunken-in midface
- Short, flattened nose
- Recessed upper jaw
- Protruding lower jaw
Signs and Symptoms
Midface dysplasia, also known as frontofacionasal dysplasia, is a rare congenital disease affecting the face. The signs and symptoms of this condition can vary highly, but some common indicators include:
- Underdevelopment of the middle portion of the face (midface hypoplasia) [8]
- Nasal hypoplasia, flat nasofrontal angle, and midface hypoplasia are specific indicators [2]
- A short, broad, and flattened nose is a characteristic feature [3]
In addition to these physical characteristics, individuals with midface dysplasia may also experience impaired intellectual development, congenital heart defects, seizures, and other systemic issues. The facial appearance can be quite distinctive, with features such as hypertelorism (wide-set eyes), pseudoprognathism (a protruding lower jaw), and trapezoid lips [4]
It's worth noting that midface dysplasia is a rare condition, and the severity of its symptoms can vary widely from person to person.
Additional Symptoms
- Seizures
- Midface hypoplasia
- Nasal hypoplasia
- Flat nasofrontal angle
- Short and flattened nose
- Hypertelorism (wide-set eyes)
- Pseudoprognathism (protruding lower jaw)
- Trapezoid lips
- Impaired intellectual development
- Congenital heart defects
Diagnostic Tests
Midface dysplasia, also known as Binder syndrome or maxillonasal dysplasia, can be diagnosed through various diagnostic tests.
- Ultrasound: Maxillonasal dysplasia can be suspected during second semester routine ultrasound. Nasal hypoplasia, flat nasofrontal angle, and midface hypoplasia are specific features that may indicate the presence of this condition [1].
- High-resolution computed tomography (CT) and magnetic resonance (MR) imaging: These imaging modalities have proved helpful in diagnosing congenital midface anomalies, including maxillonasal dysplasia [3].
- X-rays and CT scans: Supplemental tests such as X-rays and CT scans can be used to confirm the diagnosis of Binder syndrome [5].
- Genetic testing: Genetic testing for a mutation in the RUNX2 gene can help diagnose Cleidocranial Dysplasia (CCD), which is another condition that may present with midface hypoplasia [8].
- Clinical examination and X-rays: CCD is diagnosed when the condition's main features are found during a clinical examination and on X-rays. Genetic testing for a mutation in the RUNX2 gene can also be used to confirm the diagnosis [8].
It's worth noting that the diagnosis of midface dysplasia may involve a combination of these diagnostic tests, as well as a thorough physical examination and medical history.
References: [1] Context 1 [3] Context 3 [5] Context 5 [8] Context 8
Additional Diagnostic Tests
- Ultrasound
- Genetic testing
- High-resolution computed tomography (CT) and magnetic resonance (MR) imaging
- X-rays and CT scans
- Clinical examination and X-rays
Treatment
Treatment Options for Midface Dysplasia
Midface dysplasia, also known as midfacial hypoplasia, can be treated with a combination of surgical and pharmacological interventions.
- Pharmacological treatment: Antiresorptive medications such as bisphosphonates and denosumab have been used to reduce fibrous dysplasia-associated bone pains [8]. These medications work by inhibiting the activity of osteoclasts, which are cells responsible for bone resorption.
- Surgical treatment: Surgery is often necessary to correct the physical deformities associated with midface dysplasia. This can include procedures such as Le Fort III distraction osteogenesis, which involves surgically moving the midface forward to improve facial aesthetics and function [11].
- Bone grafting and facial implants: In some cases, patients may require bone grafts or facial implants to augment the maxillary midface around the nose, cheek, and orbital rims [6].
Combination Therapy
In some cases, a combination of pharmacological and surgical treatment may be necessary to effectively manage midface dysplasia. This can involve using antiresorptive medications to reduce bone pain and inflammation, while also undergoing surgical procedures to correct physical deformities.
It's worth noting that the specific treatment plan for each patient will depend on the severity and extent of their condition, as well as any other underlying health factors [4].
References:
[8] Akintoye SO. Pharmacological and surgical treatment of craniofacial bone and soft tissues. 2024. [11] Subcranial Le Fort III distraction osteogenesis for correction of severe midface hypoplasia.
Recommended Medications
- bisphosphonates
- denosumab
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses of Midfacial Hypoplasia
Midfacial hypoplasia, a type of congenital facial anomaly, can be a feature of several congenital syndromic anomalies [3]. The differential diagnoses for this condition include:
- Osteoma: A benign bone tumor that can cause midfacial hypoplasia [5, 8].
- Osteosarcoma: A type of cancer that affects the bones and can lead to midfacial hypoplasia [5, 8].
- Cherubism: A rare genetic disorder characterized by benign tumors in the jawbone, which can cause midfacial hypoplasia [5, 8].
- Giant-cell granuloma: A type of non-cancerous tumor that can affect the bones and cause midfacial hypoplasia [5, 8].
Additionally, other conditions such as craniofrontonasal dysplasia (CFND) and achondroplasia may also present with similar features to midfacial hypoplasia [6, 7]. It's essential to consider these differential diagnoses when evaluating patients with midfacial hypoplasia.
References:
[3] Midfacial hypoplasia can be a feature of a number of congenital syndromic anomalies. [5] The differential diagnoses of the condition include osteoma, osteosarcoma, cherubism and giant-cell granuloma. [6] Craniofrontonasal dysplasia (CFND) is a very rare inherited disorder characterized by body – especially facial – asymmetry, midline defects, skeletal abnormalities. [7] Achondroplasia (Achondroplastic dwarf) – Patients with this diagnosis not only have poor growth in their arms and legs, but the midface is also too small.
Additional Differential Diagnoses
- Osteoma
- Giant-cell granuloma
- Craniofrontonasal dysplasia
- cherubism
- osteosarcoma
- achondroplasia
Additional Information
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- An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.
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