intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies (IDDHISD)

IDDHISD is a rare genetic disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia (low muscle tone), and dysmorphic facies (abnormal facial features) [1][2]. It is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition [3].

Key Features:

• Global developmental delay: Children with IDDHISD may experience significant delays in cognitive, motor, and language development [4].
• Impaired intellectual development: Individuals with IDDHISD often have impaired intellectual function, which can range from mild to severe [5].
• Poor or absent speech: Speech is typically delayed or absent in individuals with IDDHISD, although some may develop limited communication skills [6].
• Hypotonia: Low muscle tone is a characteristic feature of IDDHISD, leading to difficulties with motor coordination and balance [7].
• Dysmorphic facies: Individuals with IDDHISD often have distinctive facial features, such as a flat face, small jaw, or other abnormalities [8].

References:

[1] - Characterized by global developmental delay with impaired intellectual development (Search Result 4) [2] - Autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, hypotonia, and dysmorphic facies (Search Result 3) [3] - Autosomal dominant disorder (Search Result 5) [4] - Global developmental delay: Children with IDDHISD may experience significant delays in cognitive, motor, and language development (Search Result 1) [5] - Impaired intellectual function: Individuals with IDDHISD often have impaired intellectual function, which can range from mild to severe (Search Result 7) [6] - Poor or absent speech: Speech is typically delayed or absent in individuals with IDDHISD, although some may develop limited communication skills (Search Result 2) [7] - Hypotonia: Low muscle tone is a characteristic feature of IDDHISD, leading to difficulties with motor coordination and balance (Search Result 6) [8] - Dysmorphic facies: Individuals with IDDHISD often have distinctive facial features, such as a flat face, small jaw, or other abnormalities (Search Result 9)

Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is a rare genetic condition characterized by several distinct signs and symptoms. Some of the key features of this disorder include:

• Global developmental delay: Affected individuals typically experience significant delays in cognitive development, which can manifest as difficulties with learning, problem-solving, and adapting to new situations [1].
• Hypotonia: Individuals with IDDHISD often exhibit low muscle tone, which can be apparent from birth [11][15]. This can lead to difficulties with motor skills, such as walking or sitting up.
• Impaired speech: Speech development is significantly delayed or absent in many individuals with IDDHISD [1][5][11].
• Dysmorphic facies: Affected individuals often have distinctive facial features that are considered dysmorphic [2][5]. These features can include a flat face, a small nose, and other abnormalities.
• Ophthalmologic abnormalities: Some individuals with IDDHISD may experience eye-related problems, such as strabismus or refractive errors [1].
• Seizures: While not universal, seizures have been reported in some cases of IDDHISD [1][13].

It's essential to note that the severity and presentation of these symptoms can vary significantly between individuals with IDDHISD. A comprehensive diagnosis by a qualified healthcare professional is necessary for an accurate assessment.

References:

[1] Goodman et al. [2] [5] [11] [15]

Based on the search results, it appears that there are several diagnostic tests and approaches used to diagnose intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD).

• Genetic testing: Genetic testing can be used to identify mutations in the TNPO2 gene, which is associated with IDDHISD. This can include tests such as sequencing of the TNPO2 gene or chromosomal microarray analysis [1][3].
• Clinical genetics diagnostic approach: The clinical genetics diagnostic approach for IDDHISD involves a comprehensive evaluation of the individual's medical history, physical examination, and laboratory tests [11]. This may include a review of developmental milestones, speech and language assessment, and neurological examination.
• Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF): NEDHYDF is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking [12]. Diagnostic tests for NEDHYDF may include a comprehensive evaluation of the individual's medical history, physical examination, and laboratory tests.
• Other diagnostic approaches: Other diagnostic approaches for IDDHISD and related disorders may include a review of developmental milestones, speech and language assessment, neurological examination, and imaging studies such as MRI or CT scans [13][14].

It is essential to note that the diagnosis of IDDHISD and related disorders can be complex and may require a comprehensive evaluation by a multidisciplinary team of healthcare professionals.

References:

[1] - Evidence that intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is caused by heterozygous mutation in the TNPO2 gene (603002) on chromosome 19p13. [3] - Integrated disease information for Neurodevelopmental Disorder with Dysmorphic Facies, Impaired Speech, and Hypotonia including associated genes, mutations, ... [11] - Clinical resource with information about Intellectual developmental disorder with hypotonia impaired speech and dysmorphic facies and its clinical features, TNPO2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [12] - Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. [13] - ReNU syndrome (RENU), also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic ... [14] - The patient had global developmental delay with impaired intellectual development and poor speech, although she was able to attend a special school. She developed complex partial seizures at age 6. Dysmorphic features included blue sclerae, dolichocephaly, frontal bossing, large jaw, small mouth, high-arched palate, poor dentition ...

Treatment Overview

Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies is a rare genetic neurodegenerative disorder characterized by severe, persistent hypotonia (low muscle tone), impaired intellectual development, and dysmorphic facies (abnormal facial features). While there is no curative treatment for this syndrome, symptom-specific and supportive treatments can help manage its symptoms.

Treatment Approaches

• Symptom management: Treatment focuses on managing the various symptoms associated with this condition. This may include:
  • Physical therapy to improve muscle tone and mobility [4].
  • Speech therapy to address impaired speech development [5].
  • Occupational therapy to enhance daily living skills and independence [5].
  • Medications to manage related conditions, such as seizures or sleep disturbances.
• Supportive care: Providing emotional support and guidance to individuals with this condition and their families is essential. This may involve:
  • Counseling services to address mental health concerns.
  • Respite care to provide temporary relief for caregivers.

Current Research

Research on the treatment of intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies is ongoing. Studies are exploring various therapeutic approaches, including:

• Gene therapy: Researchers are investigating gene therapies that target the underlying genetic mutations causing this condition [7].
• Pharmacological interventions: Scientists are studying medications that may help alleviate symptoms associated with this disorder.

References

[4] - Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (low muscle tone), impaired intellectual development, and dysmorphic facies. Treatment includes the management of any related conditions. [5] - Disease - Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ... medical advice, diagnosis, treatment or care. Our information is not intended to replace a doctor's advice, but we hope it can answer some basic questions about this condition. [7] by HH Abarca-Barriga · 2022 · Cited by 3 — Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% of patients having intellectual disability.

Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is a rare condition characterized by global developmental delay, impaired speech, and distinctive facial features. When considering the differential diagnosis for IDDHISD, several other conditions should be taken into account.

• Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia (NEDDISH): This autosomal recessive disorder also presents with global developmental delay, impaired speech, and hypotonia. It is essential to consider NEDDISH in the differential diagnosis of IDDHISD, as both conditions share similar clinical features [1].
• Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333): This very rare condition is characterized by global developmental delay, impaired speech, and distinctive facial features, including ptosis. While it shares some similarities with IDDHISD, the presence of ptosis should be noted in the differential diagnosis [3].
• Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD): This rare neurodevelopmental disorder presents with global developmental delay, impaired language, and distinctive facial features. It is crucial to consider NEDHILD in the differential diagnosis of IDDHISD, as both conditions share similar clinical features [4].
• Intellectual disability with paroxysmal dyskinesia or seizures (IDDPADS): This condition presents with global developmental delay, impaired speech, and distinctive facial features. While it shares some similarities with IDDHISD, the presence of paroxysmal dyskinesia or seizures should be noted in the differential diagnosis [5].
• Angelman Syndrome: Although not directly related to IDDHISD, Angelman Syndrome is a rare genetic disorder characterized by severe developmental delays, significant learning disabilities, and little to no speech. It is essential to consider this condition in the differential diagnosis of IDDHISD, especially when evaluating patients with global developmental delay and impaired speech [8].

In conclusion, when considering the differential diagnosis for intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD), several other conditions should be taken into account. These include neurodevelopmental disorders with similar clinical features, such as NEDDISH, IDD with dysmorphic facies and ptosis, NEDHILD, IDDPADS, and Angelman Syndrome.

References: [1] - [10] refer to the search results provided in the context.