craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1

Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 (CFSMR1)

CFSMR1 is a rare autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability. The syndrome is marked by cranial involvement, which can include macrocrania at birth [8].

Key Features:

• Craniofacial dysmorphism: This refers to abnormalities in the shape and structure of the face and skull.
• Skeletal anomalies: These can involve various parts of the skeletal system, including the bones of the face, limbs, and spine.
• Impaired intellectual development: Individuals with CFSMR1 often experience significant delays or impairments in cognitive development [4].

Additional Information:

• The syndrome is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Craniofacial dysmorphism and skeletal anomalies are often present at birth, while impaired intellectual development may become apparent as the child grows and develops [2].

References:

[1] by IM Abdelrazek · 2023 · Cited by 1 — Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980) is a rare autosomal recessive disorder ...

[2] Description. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement ...

[3] Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with ...

[4] An autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability.

[5] Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 (CFSMR1) is a rare autosomal recessive disorder characterized by ...

[6] Description. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement ...

[7] by IM Abdelrazek · 2023 · Cited by 1 — Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980 ) is a rare autosomal recessive disorder ...

[8] A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, ...

[9] craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1. Term ID: DOID:0081124; Synonyms. Definition: A craniofacial ...

Characteristics of Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome-1 (CFSMR1)

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is a rare autosomal recessive disorder characterized by the clinical triad of developmental delay and/or intellectual disability, a typical facial gestalt with distinct features, and variable skeletal abnormalities.

Typical Facial Features:

• Flat face
• Hypertelorism (increased distance between the eyes)
• Epicanthal folds (skin folds at the inner corner of the eye)
• Synophrys (a single eyebrow ridge)
• Broad nasal bridge
• Cleft lip and cleft palate
• Low-set posteriorly rotated ears

Additional Features:

• Impaired intellectual development with poor or absent speech
• Variable skeletal abnormalities, including craniofacial dysmorphism
• Additional features may include neurodevelopmental problems, such as anxiety, autism spectrum disorder, or self-injuring behaviors.

References:

• [1] Craniofacial involvement with characteristic facial gestalt and impaired intellectual development syndrome-1 (CFSMR1) is characterized by cranial involvement with ...
• [2] is a rare autosomal recessive disorder characterized by the clinical triad of developmental delay and/or intellectual disability, a typical facial gestalt with ...
• [3] Facial dysmorphisms include flat face, hypertelorism, epicanthal folds, synophrys, broad nasal bridge, cleft lip and cleft palate, and low-set posteriorly ...
• [5] ... impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities.
• [9] Typical frequent signs and symptoms originally described by Shprintzen et al. (1981) comprise cleft palate, cardiac anomalies, typical facial characteristics ...

Note: The information provided is based on the search results and may not be an exhaustive list of all possible signs and symptoms associated with CFSMR1.

Diagnostic Tests for Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1) is a rare autosomal recessive disorder that requires accurate diagnosis to provide appropriate care. The following diagnostic tests are used to identify this condition:

• Clinical Genetic Test: A clinical genetic test offered by Intergen can diagnose conditions such as CFSMR1, which includes craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 [2].
• Genetic Testing: Genetic testing is a crucial diagnostic tool for identifying the underlying genetic cause of CFSMR1. This test can help confirm the presence of the condition and rule out other potential causes [4][10].
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI may be used to evaluate skeletal anomalies and craniofacial dysmorphism associated with CFSMR1 [5].

It's essential to note that a comprehensive diagnostic evaluation should be conducted by a qualified healthcare professional, including a geneticist or a medical geneticist, to accurately diagnose CFSMR1.

References:

[2] Clinical Genetic Test offered by Intergen for conditions (1): Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1; [4] by IM Abdelrazek · 2023 · Cited by 1 — Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980 ) is a rare autosomal recessive disorder ... [5] Oct 22, 2024 — Abstract. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980) is a rare ... [10] CentoDysmorph is designed to help physicians diagnose patients that suffer from a dysmorphic syndrome. The panel includes craniosynostosis, craniofacial ...

Treatment Options for Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome-1 (CFSMR1)

While there is limited information available on the specific treatment of CFSMR1, research suggests that a multidisciplinary approach may be beneficial in managing the condition.

• Growth Hormone Treatment: According to a study published in 2023 [1], growth hormone treatment has been used to manage the symptoms of CFSMR1. The study reports on two years of growth hormone treatment in an individual with CFSMR1, which resulted in improved growth parameters and some improvement in cognitive function.
• Disease-Related Drug Treatment: Another study published in 2024 [7] mentions the use of disease-related drugs to treat CFSMR1. However, no specific details are provided on the type of medication or its effectiveness.

It is essential to note that these treatment options may not be universally applicable and should be tailored to individual cases. A comprehensive treatment plan for CFSMR1 would likely involve a team of healthcare professionals, including pediatricians, geneticists, neurologists, and psychologists.

References:

[1] Abdelrazek IM (2023) - Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. [2] [7] Oct 22, 2024 - Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 ... treatment of disease-related drugs ...

Please note that the information provided is based on a limited number of search results, and more research may be needed to fully understand the treatment options for CFSMR1.

Differential Diagnosis for Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome-1 (CFSMR1)

The differential diagnosis for CFSMR1 includes several syndromes that display growth failure, intellectual disability, and/or facial dysmorphism. Some of these syndromes are:

• Seckel syndrome: characterized by severe growth retardation, microcephaly, and distinctive facial features [4].
• CHARGE syndrome: a rare