mandibulofacial dysostosis with alopecia

Craniofacial Dysmorphic Features

Mandibulofacial dysostosis with alopecia, also known as MFDA, is a rare genetic disorder characterized by distinctive craniofacial dysmorphic features. These include:

• Zygomatic and mandibular dysplasia or hypoplasia [1][2]
• Cleft palate
• Micrognathia (small lower jaw)
• Dental anomalies
• Auricular dysmorphism (abnormalities of the ears)
• Eyelid anomalies

Additional Symptoms

Individuals with MFDA may also experience limited jaw mobility, glossoptosis (tongue protrusion), and upper airway obstruction [2]. These symptoms can significantly impact daily life and overall quality of care.

References:

[1] A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others.

[2] A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and ...

Mandibulofacial dysostosis with alopecia, also known as a rare genetic disorder, presents with several distinct signs and symptoms.

• Facial abnormalities: Individuals with this condition often exhibit malar and mandibular hypoplasia, which refers to underdevelopment of the cheekbones and lower jawbone [2][3].
• Ear anomalies: Abnormalities of the ears are a common feature, including low-set ears [8].
• Eyelid issues: Severe lower eyelid coloboma, cleft palate, and other eye-related problems have been reported in some cases [1][7].
• Alopecia: As the name suggests, alopecia or excessive hair loss is a characteristic symptom of this condition.
• Other symptoms: In addition to these primary features, individuals with mandibulofacial dysostosis with alopecia may also experience facial asymmetry, sparse eyebrows, and other related issues [8].

It's essential to note that the severity and specific manifestations of this condition can vary significantly among affected individuals.

References: [1] by RM Zechi-Ceide · 2010 · Cited by 9 [2] by Y Kurihara · 2023 · Cited by 3 [3] by CT Gordon · 2015 · Cited by 48 [7] by RM Zechi‐Ceide · 2010 · Cited by 9 [8] Face. - Facial asymmetry, mild [UMLS: C1969402] [SNOMEDCT: 13851000119109, 15253005] ; Ears. - Low-set ears [SNOMEDCT: 95515009] [ICD10CM: Q17.4] ; Eyes. - Sparse ...

Mandibulofacial dysostosis with alopecia, also known as Miller syndrome, is a rare genetic disorder characterized by facial abnormalities and hair loss. Diagnostic tests for this condition typically involve molecular genetics analysis.

• Deletion/duplication analysis: This test can help identify deletions or duplications in the EDNRA gene, which is associated with autosomal dominant mandibulofacial dysostosis with alopecia (MFDA) [8].
• Sequence analysis of the entire coding region: This test involves sequencing the entire coding region of the EDNRA gene to detect any mutations that may be causing the condition [9].
• Targeted variant analysis: This test can help identify specific variants in the EDNRA gene that are associated with MFDA [2].

These diagnostic tests can provide a definitive diagnosis for individuals suspected to have mandibulofacial dysostosis with alopecia. However, it's essential to consult with a qualified healthcare professional or genetic counselor to determine the best course of action and interpretation of test results.

References: [1] Context result 5 [2] Context result 2 [4] Context result 4 [8] Context result 8 [9] Context result 9

Current Status of Drug Treatment

Unfortunately, there is no specific drug treatment available for the general disorder of

Mandibulofacial dysostosis with alopecia (MFDA) is a rare genetic disorder characterized by facial abnormalities, hair loss, and other systemic features. When considering the differential diagnosis for MFDA, several conditions come to mind.

• Mandibulofacial dysostosis Guion-Almeida type (MFDGA): This condition is a relevant differential diagnosis for individuals with MFDA, as it also presents with facial abnormalities and alopecia [8]. MFDGA is caused by mutations in the EDARADD gene.
• Other craniofacial syndromes: Conditions such as craniofacial dysostosis, mandibulofacial dysostosis, and other rare genetic disorders may present with similar facial features to MFDA. A thorough evaluation of the individual's medical history, physical examination, and genetic testing is necessary to rule out these conditions.
• Alopecia areata: This autoimmune condition can cause patchy hair loss, which may be mistaken for alopecia in individuals with MFDA [9].
• Other systemic disorders: Conditions such as ectodermal dysplasias, chromosomal abnormalities, and other rare genetic syndromes may also present with similar features to MFDA.

It is essential to note that a comprehensive evaluation by a multidisciplinary team of healthcare professionals, including dermatologists, geneticists, and craniofacial specialists, is necessary to accurately diagnose and manage individuals with MFDA.