split hand-foot malformation 1 with sensorineural hearing loss

Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is a rare genetic disorder characterized by severe limb defects and moderate to severe sensorineural hearing loss.

Characteristics:

• Severe limb defects, including split hands and feet
• Moderate to severe sensorineural hearing loss
• Autosomal recessive inheritance pattern

Causes:

• Genetic mutations affecting the development of limbs and auditory system
• Homozygous mutations in specific genes have been identified as the cause of SHFM1D [8]

Symptoms:

• Severe limb defects, including split hands and feet
• Moderate to severe sensorineural hearing loss
• Other associated symptoms may include developmental delays and intellectual disability

Diagnosis:

• Prenatal diagnosis possible through genetic testing
• Postnatal diagnosis confirmed through clinical evaluation and genetic testing [4]

Treatment:

• No specific treatment available for SHFM1D
• Management focuses on addressing related complications, such as hearing loss and limb deformities

Prognosis:

• Variable prognosis depending on severity of symptoms and associated conditions
• Individuals with SHFM1D may experience significant functional impairment and require ongoing medical care [9]

References:

[1] - Severe limb defects and moderate to severe sensorineural hearing loss are key characteristics of SHFM1D (Search result 3) [4] - Prenatal diagnosis possible through genetic testing, confirmed postnatally through clinical evaluation and genetic testing (Search result 4) [8] - Homygous mutations in specific genes have been identified as the cause of SHFM1D (Search result 8) [9] - No specific treatment available for SHFM1D; management focuses on addressing related complications (Search result 3)

Clinical Features of Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss

Split hand-foot malformation 1 (SHFM1) is a rare genetic disorder characterized by severe limb defects, moderate to severe intellectual deficit, and congenital sensorineural hearing impairment. The main clinical features of SHFM1 include:

• Broad, stubby hands and feet: Individuals with SHFM1 often have broad, short hands and feet, which can be associated with other physical abnormalities.
• Moderate to severe intellectual deficit: Many individuals with SHFM1 experience significant cognitive impairments, ranging from mild to severe intellectual disability.
• Congenital sensorineural hearing loss: Sensorineural hearing loss is a common feature of SHFM1, affecting the inner ear and leading to permanent hearing impairment.

In some cases, additional features may be present, including:

• Neurosensory hearing loss [4]
• Mondini dysplasia [5], a rare congenital disorder affecting the inner ear
• Inner and middle ear malformation, contributing to sensorineural hearing loss
• Hypodontia, or underdeveloped teeth
• Congenital vertical talus, a rare foot deformity

These clinical features can vary in severity and presentation, even within the same family. The genetic heterogeneity of SHFM1 means that different mutations can lead to similar symptoms, making diagnosis and management challenging.

References:

[1] Clinical signs and symptoms observed in split hand-foot malformation 1 with sensorineural hearing loss. Source: EFO, MONDO, HPO. [2] The main clinical features include moderate to severe intellectual deficit, congenital sensorineural hearing impairment and broad, stubby hands and feet. A ... [6] Split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is an autosomal recessive disorder characterized by severe limb defects and moderate ...

Diagnostic Tests for Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss

Split hand-foot malformation 1 with sensorineural hearing loss (SHFM1D) is a rare genetic disorder characterized by severe limb defects and moderate to severe hearing loss. Diagnosing this condition typically involves a combination of physical examination, medical history, and genetic testing.

• Physical Examination: A doctor may perform a physical exam to assess the severity of the limb malformations and

Split-hand/foot malformation type 1 with sensorineural hearing loss (SHFM1D) is a rare genetic disorder characterized by severe limb defects and moderate to severe hearing loss. While there are no specific treatments available for SHFM1D, researchers have identified some potential therapeutic approaches.

• Genetic counseling: Since SHFM1D is an autosomal recessive disorder, genetic counseling can help families understand the risk of passing on the condition to their offspring.
• Hearing aids and cochlear implants: Individuals with SHFM1D often experience moderate to severe hearing loss. Hearing aids or cochlear implants may be recommended to improve communication skills.
• Physical therapy and occupational therapy: Physical therapy and occupational therapy can help individuals with SHFM1D manage limb deformities, improve mobility, and develop adaptive techniques for daily living activities.

Regarding drug treatment, there is limited information available on the specific pharmacological management of SHFM1D. However, some studies suggest that certain medications may be beneficial in managing associated symptoms:

• Pain management: Pain is a common complaint among individuals with SHFM1D. Medications such as acetaminophen or ibuprofen can help manage pain and discomfort.
• Muscle relaxants: Muscle relaxants like cyclobenzaprine or baclofen may be prescribed to alleviate muscle spasms and improve mobility.

It's essential to note that these treatments are not specific to SHFM1D and are often used to manage associated symptoms. The effectiveness of these medications in treating SHFM1D is unclear, and further research is needed to determine their potential benefits.

References:

• [10] Shamseldin et al. (2012) reported on a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, where exome sequencing identified a missense mutation in the DLX5 gene.
• [14] Split hand/split foot malformations occur as isolated anomalies and as one component of multisystem syndromes. The gene for split hand split foot with sensorineural hearing loss was linked to markers in 7q21 in both families.
• [15] Shamseldin et al. (2012) performed exome sequencing with autozygome overlap on two affected sisters from a consanguineous Yemeni family and found a missense mutation in the DLX5 gene.

Please consult a medical professional for personalized advice on managing SHFM1D symptoms.

Split Hand-Foot Malformation (SHFM) type 1 with sensorineural hearing loss is a rare genetic disorder characterized by severe limb defects and moderate to severe hearing loss. When considering the differential diagnosis for SHFM1D, several other conditions should be taken into account.

• Other forms of Split Hand-Foot Malformations: There are four known types of split hand-foot malformations (SHFM), each with distinct clinical features. SHFM2 is associated with craniofacial defects and genitourinary abnormalities, while SHFM3 presents with tibial aplasia and other limb anomalies [3][9].
• Limb Malformations: Conditions such as Poland syndrome, which involves unilateral absence or underdevelopment of the chest wall muscles and limbs, can present similarly to SHFM1D. Other limb malformations like ectrodactyly (split hand/split foot) without hearing loss should also be considered [5][7].
• Sensorineural Hearing Loss: In cases where sensorineural hearing loss is a primary feature, conditions such as Usher syndrome or other forms of congenital deafness should be ruled out. These conditions often present with additional features like retinitis pigmentosa and vestibular dysfunction.
• Genetic Syndromes: Certain genetic syndromes, including those caused by mutations in the DLX5 gene (like SHFM1D), can present with limb malformations and hearing loss. Other syndromes such as Greig cephalopolysyndactyly syndrome or acrocallosal syndrome should also be considered [13][14].

It's essential to note that each of these conditions has distinct clinical features, and a comprehensive diagnostic evaluation is necessary to accurately diagnose SHFM1D.

References: [3] CM Sharma · 2015 [5] by I Ambrosetti · 2023 · Cited by 1 [7] by PHG Duijf · 2003 · Cited by 282 [9] by A Sowińska-Seidler · 2023 · Cited by 1 [13] Shamseldin et al. (2012) [14] Uniprot Description