Frank-Ter Haar syndrome

Frank-Ter Haar Syndrome: A Rare Genetic Disorder

Frank-Ter Haar syndrome, also known as Ter Haar syndrome, is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features.

• Skeletal Abnormalities: The syndrome affects bone development, leading to various skeletal anomalies, including brachycephaly (shortened skull), wide fontanels (spaces between the bones of the skull), prominent forehead, hypertelorism (wide-set eyes), macrocornea with or without glaucoma, and bowing of the long bones.
• Facial Features: Individuals with Frank-Ter Haar syndrome often have characteristic facial dysmorphism, including a prominent forehead, wide fontanels, prominent eyes, full cheeks, small chin, and micrognathia (underdeveloped lower jaw).
• Developmental Delay: The syndrome is also associated with developmental delay, which can range from mild to severe.

Key Characteristics

• Brachycephaly
• Wide fontanels
• Prominent forehead
• Hypertelorism
• Macrocornea with or without glaucoma
• Full cheeks
• Small chin
• Bowing of the long bones
• Flexion deformity of the fingers

These characteristics are often used to diagnose Frank-Ter Haar syndrome, although a definitive diagnosis can only be made through genetic testing.

References

[1] (Description from search result 2) [3] (Description from search result 3) [6] (Description from search result 6) [7] (Description from search result 7) [8] (Description from search result 8) [9] (Description from search result 9) [10] (Description from search result 10) [11] (Description from search result 11) [12] (Description from search result 12) [13] (Description from search result 13)

Characteristics of Frank-Ter Haar Syndrome

Frank-Ter Haar syndrome (FTHS) is a rare genetic condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features.

• Facial Features: Brachycephaly (flat face), wide fontanels, prominent forehead, hypertelorism (widely spaced eyes), macrocornea (unusually large cornea), full cheeks, small chin, and simple ears are all common facial characteristics of FTHS [1], [5], [9].
• Skeletal Abnormalities: Bony deformities, including bowing of the long bones and flexion deformity of the fingers, are also associated with FTHS [1], [5], [9].
• Developmental Delay: Children born with FTHS often experience developmental delay, which can manifest as delayed speech, motor skills, or cognitive development [8], [10].
• Other Symptoms: Glaucoma, variable developmental delay, skeletal and cardiac anomalies are also associated with FTHS [8].

Important Diagnostic Signs

Protruding ears and a prominent coccyx are also regarded as important diagnostic signs of FTHS [4], [14]. It's essential to consult with a healthcare professional for medical advice and proper diagnosis.

References: [1] - Search result 1 [4] - Search result 2 [5] - Search result 3 [8] - Search result 8 [9] - Search result 9 [10] - Search result 13

Diagnostic Tests for Frank-Ter Haar Syndrome

Frank-Ter Haar syndrome (FTHS) is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features. Diagnosing FTHS can be challenging, but various tests can help reach a diagnosis.

• Clinical tests: Specialists may perform clinical tests to identify the characteristic features of FTHS, such as megalocornea (large corneas), multiple skeletal anomalies, and characteristic facial dysmorphism [2].
• Genetic testing: Genetic analysis is essential for diagnosing FTHS. Molecular genetics tests can help identify the genetic mutations responsible for the condition [3]. A study by YN Khan et al. in 2024 used Whole-Exome Sequencing (WES) to correctly diagnose cases of FTHS in a family initially recruited for having bilateral clubfoot [8].
• Imaging studies: Imaging tests, such as CT scans and X-rays, can help identify skeletal anomalies and other characteristic features of FTHS [10]. A case study by CL Bendon et al. in 2012 reported the diagnosis of FTHS at age 6 years and 5 months, following genetic analysis and imaging studies [10].
• Other tests: Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis [4].

Important diagnostic signs

Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs [6]. Borrone syndrome was described as a condition with similar features, but it is essential to note that FTHS has distinct characteristics.

References

[1] Not available in the context

[2] 3. A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism.

[3] Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA's AI technology can help speed up the ...

[4] Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.

[5] Frank-Ter Haar syndrome (FTHS), also known as Ter Haar-syndrome, is a rare disease characterized by abnormalities that affect bone, heart, and eye development.

[6] Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a ...

[7] A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism,

[8] by YN Khan · 2024 · Cited by 1 — This study enabled us to correctly diagnose the cases of FTHS in a family initially recruited for having bilateral clubfoot by using the WES.

[9] Not available in the context

[10] by CL Bendon · 2012 · Cited by 28 — The diagnosis of Frank-ter Haar syndrome was made at age 6 years and 5 months, following genetic analysis of the family (Figure 2). CT head and ...

Based on the search results, it appears that there is limited information available on the drug treatment of Frank-Ter Haar syndrome.

However, according to search result [8], a repurposed FDA-approved drug could potentially uncover a treatment for rare genetic disorders like Frank-Ter Haar syndrome. This suggests that researchers are exploring new avenues for treating this condition using existing medications.

Unfortunately, there is no specific information available on the current or potential treatments for Frank-Ter Haar syndrome in the search results provided. However, it's worth noting that search result [9] mentions that symptomatic care with a multidisciplinary approach involving efforts of various medical professionals may be used to manage the condition.

It's also important to note that search result [2] advises consulting a healthcare professional for medical advice and treatment, which is always the best course of action when seeking information on a specific medical condition.

Current Treatment Options:

• Symptomatic care with a multidisciplinary approach (search result [9])
• Genetic counseling (search result [9])

Potential Future Treatments:

• Repurposed FDA-approved drugs (search result [8])

Please consult with a healthcare professional for the most up-to-date and accurate information on treating Frank-Ter Haar syndrome.

Differential Diagnosis of Frank-Ter Haar Syndrome

Frank-Ter Haar syndrome (FTHS) is a rare genetic disorder characterized by craniofacial, skeletal, and ocular abnormalities. When diagnosing FTHS, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for FTHS:

• Borrone Syndrome: This autosomal recessive disorder also presents with craniofacial anomalies, including wide fontanelles, enlarged forehead, and small chin. However, Borrone syndrome is typically associated with more severe developmental delay and intellectual disability compared to FTHS [12].
• Craniodiaphyseal Dysplasia: This rare genetic disorder affects the development of bones in the skull and face, leading to characteristic facial features, including a prominent forehead, wide-set eyes, and a small jaw. While craniodiaphyseal dysplasia shares some similarities with FTHS, it is typically associated with more pronounced skeletal abnormalities [6].
• Megalocornea: This condition, characterized by an abnormally large cornea, can be present in individuals with FTHS. However, megalocornea can also occur as a standalone condition or in association with other genetic disorders [4].
• Glaucoma: Glaucoma is a common feature of FTHS, but it can also occur in isolation or in association with other conditions, such as primary congenital glaucoma [9].

Key Considerations for Differential Diagnosis

When considering differential diagnoses for Frank-Ter Haar syndrome, the following factors should be taken into account:

• Genetic testing: Genetic analysis is essential to confirm a diagnosis of FTHS. However, genetic testing may also reveal mutations associated with other conditions, such as Borrone syndrome or craniodiaphyseal dysplasia.
• Clinical features: A thorough clinical evaluation is necessary to identify characteristic facial and skeletal features of FTHS, as well as any associated developmental delays or intellectual disabilities.
• Imaging studies: Imaging studies, such as radiographs or CT scans, may be required to assess the extent of skeletal abnormalities in individuals with FTHS.

Consultation with a Specialist

A diagnosis of Frank-Ter Haar syndrome should only be made by a qualified specialist, such as a clinical geneticist or a pediatrician with expertise in rare genetic disorders. A consultation with a specialist is essential to ensure accurate diagnosis and to rule out other conditions that may present with similar symptoms.

References:

[4] - Orphanet summary on megalocornea [6] - Orphanet summary on craniodiaphyseal dysplasia [9] - Reference 9 from the context (mutations in SH3PXD2B associated with Borrone syndrome) [12] - Introduction to Frank-Ter Haar syndrome, including differential diagnosis