Floating-Harbor syndrome

Floating-Harbor syndrome is a rare genetic disorder characterized by short stature, delayed speech development, and distinctive facial features.

Physical Characteristics:

• Short stature [5]
• Delayed bone age [1][3]
• Characteristic facial features include:
  • Triangular-shaped face [6]
  • Prominent bulbous nose with broad nasal bridge [6]
  • Wide columella [6]
  • Deep-set eyes with long eyelashes [6]
  • Wide mouth with thin upper lip [6]
  • Low-set ears [6]
  • Sometimes broad thumbs and big toes [6]

Developmental Delays:

• Delayed speech development [3][5]
• Severe receptive and expressive language impairment [3]

Other Features:

• Bone age delay that normalizes between ages six and 12 years [3]
• Skeletal anomalies, such as brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, and clavicular abnormalities [3]

Floating-Harbor syndrome is a rare condition with fewer than 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.

References: [1] - Search result 5 [2] - Search result 3 [3] - Search result 3 [6] - Search result 6

Floating-Harbor syndrome (FHS) is characterized by a distinct set of signs and symptoms, which can vary in severity from person to person.

Physical Characteristics:

• Short stature [1][3][4][11][12][13]
• Skeletal abnormalities, such as brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, and others [4]
• Delayed bone age that normalizes between ages six and 12 years [4]

Facial Features:

• Triangular-shaped face [6]
• Prominent bulbous nose with a broad nasal bridge [6]
• Wide columella [6]
• Deep-set eyes with long eyelashes [6]

Developmental Delays:

• Delayed speech development [3][5][10][14]
• Speech and language problems [11]
• Mild to moderate intellectual disabilities [11]

Other Symptoms:

• Kidney problems [11]
• Minor problems with hearing and vision [11]
• Characteristic facial features [8][9][10][14]

Floating-Harbor syndrome (FHS) can be diagnosed through various genetic tests, which have become increasingly available in recent years.

• Single-gene testing: This involves analyzing the SRCAP gene on chromosome 16p11.2 to confirm the diagnosis of FHS [3][4].
• Genetic test offered by Genetic Services Laboratory: The laboratory offers a clinical genetic test for conditions such as FHS, which includes testing the SRCAP gene [2].
• Molecular genetic testing: This approach can include single-gene testing and is often used to confirm the diagnosis of FHS when phenotypic and laboratory findings suggest it [3][4].
• NGS screening panel: A next-generation sequencing (NGS) screening panel for imprinting syndromes and related disorders, including FHS, is also available [8].

To perform these tests, a blood sample or extracted DNA can be used, along with other samples such as buccal swab or saliva [7]. It's essential to note that the availability of these tests may vary depending on the location and laboratory.

References: [1] Not provided in context [2] Provided in context (result 2) [3] Provided in context (result 3) [4] Provided in context (result 6) [7] Provided in context (result 7) [8] Provided in context (result 8)

Floating-Harbor Syndrome (FHS) is a rare genetic disorder characterized by short stature, delayed speech development, and other physical and developmental features.

Treatment Options

While there is no known cure for FHS, various treatment options can help manage its symptoms and improve the quality of life for affected individuals. According to search results [3][5], some potential treatment approaches include:

• Growth Hormone Therapy: Growth hormone therapy may be beneficial in some cases of FHS, particularly those with short stature [2]. However, its effectiveness and safety still need to be monitored in larger studies [2].
• Developmental and Educational Programs: Patients may benefit from developmental and educational programs to support their cognitive and motor skills development [5].
• Orthodontic Care: Regular orthodontic care is recommended to address any dental or facial abnormalities associated with FHS [5].

Other Considerations

It's essential to note that treatment for FHS should be tailored to the individual's specific needs, taking into account their unique set of symptoms and features. In some cases, treatment may focus on managing specific complications, such as:

• Hearing Loss: Treatment is needed if hearing loss affects speech development [8].
• Seizures/Epilepsy: Seizures or epilepsy have been reported in some cases of FHS; treatment should be provided accordingly [6][8].

While these treatment options can help alleviate symptoms and improve quality of life, it's crucial to consult with a healthcare professional for personalized guidance and care.

References:

[1] Not applicable (search results do not provide relevant information on this topic)

[2] by H Bo · 2021 · Cited by 7 — rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger ...

[3] Dec 19, 2022 — Floating-Harbor syndrome has no known cure. Managing the symptoms and features entail keeping a close eye on the person's physical and mental ...

[5] Patients may benefit from developmental and educational programs and should receive regular orthodontic care. Growth hormone therapy may be of benefit in some ...

[6] Treatment is needed if this affects how well the child can hear as good hearing is important for speech development. Seizures/epilepsy have been reported in a ...

[8] Treatment is needed if this affects how well the child can hear as good hearing is important for speech development. Seizures/epilepsy have been reported in a ...

Floating-Harbor syndrome (FHS) is a rare genetic disorder, and as such, its differential diagnosis involves considering other conditions that may present with similar symptoms.

According to the medical literature [1], the differential diagnosis for FHS should include other dysmorphic syndromes, particularly Rubinstein-Taybi syndrome. Additionally, Russell-Silver syndrome and 3-M syndrome are also included in the differential diagnosis for FHS [3].

Other conditions that may be considered in the differential diagnosis of FHS include:

• Triangular face, short 5th fingers, bone age delay, and hypospadias in males [4]
• Broad thumbs, which can be a feature of Rubinstein-Taybi syndrome and also considered in the differential diagnosis for FHS [7]

It's worth noting that Floating-Harbor syndrome (FLHS) is characterized by proportionate short stature, delayed bone age, delayed speech development, and other distinctive features [8]. However, its cause remains unknown, and diagnosis is established by the presence of a heterozygous SRCAP mutation in affected individuals [9].

In summary, the differential diagnosis for Floating-Harbor syndrome involves considering other rare genetic disorders that may present with similar symptoms, including Rubinstein-Taybi syndrome, Russell-Silver syndrome, 3-M syndrome, and others.

References: [1] Context result 2 [3] Context result 3 [4] Context result 4 [7] Context result 7 [8] Context result 8 [9] Context result 9