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Baker-Gordon Syndrome

Presentation

[citation needed] Management[edit] At present, only supportive management of symptoms is available as there is no known curative treatment for this condition. [en.wikipedia.org]

Walking and speech are delayed and moderate to profound intellectual impairment is virtually always present. Involuntary movements such as dystonia, ataxia, dyskinesias, and choreoathetosis are often seen. [disorders.eyes.arizona.edu]

Mindfulness-based interventions in context: Past, present, and future clinical psychology. Science & Practice. 2003; 10(2):144–156. Shonin E, Gordon W, Griffiiths M. [ciberindex.com]

Entire Body System

  • Developmental Delay

    The patients, who ranged from 3 to 21 years of age, had global developmental delay from infancy, including hypotonia and delayed walking or inability to walk (7 patients), poor or absent speech, and moderate to profoundly impaired intellectual development [findzebra.com]

    delay or intellectual disability Sleep disturbance Episodic agitation Epileptic seizures are not a feature of this disorder (despite abnormal EEG) and head circumference is typically normal. [en.wikipedia.org]

    There is general developmental delay with impaired intellectual development, delayed or absent walking, and behavioral psychiatric manifestations such as stereotypic and unpredictable outbursts. [disorders.eyes.arizona.edu]

    Delayed ability to walk MedGen UID: 66034 •Concept ID: C0241726 • Finding A failure to achieve the ability to walk at an appropriate developmental stage. [ncbi.nlm.nih.gov]

  • Feeding Difficulties

    Other common features included feeding difficulties, including gastroesophageal reflux; behavioral abnormalities, including head-banging, hand chewing, stereotypic behaviors, and screaming outbursts; and ophthalmologic abnormalities, such as strabismus [findzebra.com]

    Feeding difficulties MedGen UID: 65429 •Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. [ncbi.nlm.nih.gov]

  • Movement Disorder

    […] synaptotagmin-1 (SYT1) gene.[1] Signs and symptoms[edit] Patients present with neurodevelomental impairments and symptoms including:[1] Infantile hypotonia Congenital ophthalmic abnormalities Childhood onset hyperkinetic movement disorder Stereotypical [en.wikipedia.org]

    Dyskinesia MedGen UID: 8514 •Concept ID: C0013384 • Disease or Syndrome A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [ncbi.nlm.nih.gov]

Musculoskeletal

  • Foot Deformity

    Other physical features include a high forehead, scoliosis, joint laxity, and foot deformities. The EEG may show a variety of non-specific abnormalities but seizures have not been described. [disorders.eyes.arizona.edu]

    Less common features included skeletal issues, such as joint laxity, foot deformities, and scoliosis, as well as central sleep apnea. [findzebra.com]

Eyes

  • Strabismus

    Many individuals have strabismus, hypermetropia, and nystagmus. Other physical features include a high forehead, scoliosis, joint laxity, and foot deformities. [disorders.eyes.arizona.edu]

    Other common features included feeding difficulties, including gastroesophageal reflux; behavioral abnormalities, including head-banging, hand chewing, stereotypic behaviors, and screaming outbursts; and ophthalmologic abnormalities, such as strabismus [findzebra.com]

    Strabismus MedGen UID: 21337 •Concept ID: C0038379 • Disease or Syndrome A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. [ncbi.nlm.nih.gov]

  • Esotropia

    Hypermetropia (farsightedness) corrected with glasses in selected cases may assist children in their educational experience and could decrease the degree of esotropia. Additional Information [disorders.eyes.arizona.edu]

    Other common features included feeding difficulties, including gastroesophageal reflux; behavioral abnormalities, including head-banging, hand chewing, stereotypic behaviors, and screaming outbursts; and ophthalmologic abnormalities, such as strabismus, esotropia [findzebra.com]

  • Visual Impairment

    […] attention, and central visual impairment. [findzebra.com]

    Visual impairment MedGen UID: 777085 •Concept ID: C3665347 • Finding Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability [ncbi.nlm.nih.gov]

  • Visual Impairment

    […] attention, and central visual impairment. [findzebra.com]

    Visual impairment MedGen UID: 777085 •Concept ID: C3665347 • Finding Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability [ncbi.nlm.nih.gov]

  • Almond-Shaped Eyes

    The patients had similar mild dysmorphic features, including prominent high forehead, horizontal low-set eyebrows, mild epicanthus, almond-shaped eyes, short nose with prominent nasal tip, smooth philtrum, and thin upper lip. [findzebra.com]

Face, Head & Neck

  • Short Nose

    The patients had similar mild dysmorphic features, including prominent high forehead, horizontal low-set eyebrows, mild epicanthus, almond-shaped eyes, short nose with prominent nasal tip, smooth philtrum, and thin upper lip. [findzebra.com]

    Systemic Features: The facial features ae described as "fine" with a short nose and a thin upper lip. The forehead is unusually high. [disorders.eyes.arizona.edu]

    Short nose MedGen UID: 343052 •Concept ID: C1854114 • Finding Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [ncbi.nlm.nih.gov]

Psychiatrical

  • Head Banging

    Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. Central sleep apnea has been described. [disorders.eyes.arizona.edu]

    Other common features included feeding difficulties, including gastroesophageal reflux; behavioral abnormalities, including head-banging, hand chewing, stereotypic behaviors, and screaming outbursts; and ophthalmologic abnormalities, such as strabismus [findzebra.com]

  • Suggestibility

    Diagnosis and Prognosis: The clinical features at birth may not suggest the diagnosis of Baker-Gordon Syndrome. The lack of normal development in early childhood should arouse suspicion of a neurodevelopmental disorder. [disorders.eyes.arizona.edu]

  • Self-Mutilation

    Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. Central sleep apnea has been described. [disorders.eyes.arizona.edu]

  • Anger

    Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. Central sleep apnea has been described. [disorders.eyes.arizona.edu]

  • Abnormal Behavior

    Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. Central sleep apnea has been described. [disorders.eyes.arizona.edu]

Neurologic

  • Nystagmus

    Many individuals have strabismus, hypermetropia, and nystagmus. Other physical features include a high forehead, scoliosis, joint laxity, and foot deformities. [disorders.eyes.arizona.edu]

    […] features included feeding difficulties, including gastroesophageal reflux; behavioral abnormalities, including head-banging, hand chewing, stereotypic behaviors, and screaming outbursts; and ophthalmologic abnormalities, such as strabismus, esotropia, nystagmus [findzebra.com]

    Nystagmus MedGen UID: 45166 •Concept ID: C0028738 • Disease or Syndrome Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. [ncbi.nlm.nih.gov]

  • Ataxia

    Involuntary movements such as dystonia, ataxia, dyskinesias, and choreoathetosis are often seen. Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. [disorders.eyes.arizona.edu]

    Most patients had abnormal involuntary movements, such as dystonia, ataxia, dyskinesias, choreoathetosis, and hyperkinetic or stereotypic movements. [findzebra.com]

    Cerebellar ataxia MedGen UID: 849 •Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]

  • Dystonia

    Involuntary movements such as dystonia, ataxia, dyskinesias, and choreoathetosis are often seen. Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. [disorders.eyes.arizona.edu]

    Most patients had abnormal involuntary movements, such as dystonia, ataxia, dyskinesias, choreoathetosis, and hyperkinetic or stereotypic movements. [findzebra.com]

  • Involuntary Movements

    Most patients had abnormal involuntary movements, such as dystonia, ataxia, dyskinesias, choreoathetosis, and hyperkinetic or stereotypic movements. [findzebra.com]

    Involuntary movements such as dystonia, ataxia, dyskinesias, and choreoathetosis are often seen. Abnormal behaviors such as outbursts of anger, poor attention span, head-banging, and self-mutilation are common. [disorders.eyes.arizona.edu]

    Involuntary movements MedGen UID: 140884 •Concept ID: C0427086 • Sign or Symptom Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. [ncbi.nlm.nih.gov]

  • Abnormal Involuntary Movement

    Most patients had abnormal involuntary movements, such as dystonia, ataxia, dyskinesias, choreoathetosis, and hyperkinetic or stereotypic movements. [findzebra.com]

Workup

EEG

  • Multifocal Discharges

    Although none had overt seizures, most had abnormal EEG studies that showed absent background activity, symmetric bursts, multifocal discharges, and sharp and spike wave complexes. [findzebra.com]

Treatment

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

[citation needed] Management[edit] At present, only supportive management of symptoms is available as there is no known curative treatment for this condition. [en.wikipedia.org]

Prognosis

Diagnosis and Prognosis: The clinical features at birth may not suggest the diagnosis of Baker-Gordon Syndrome. The lack of normal development in early childhood should arouse suspicion of a neurodevelopmental disorder. [disorders.eyes.arizona.edu]

PMID: 28778787 Prognosis Kvernadze A, Tatishvili N, Lomidze G, Tarkhnishvili N, Kipiani T, Tatishvili S Epileptic Disord 2022 Apr 1;24(2):359-372. doi: 10.1684/epd.2021.1397. [ncbi.nlm.nih.gov]

Etiology

[…] system Cerebellar ataxia Choreoathetosis Delayed ability to walk Dyskinesia Dystonic disorder EEG abnormality Global developmental delay Hyperkinetic movements Inability to walk Involuntary movements Motor stereotypy Self-injurious behavior Sleep apnea Etiology [ncbi.nlm.nih.gov]

Prevention

Preventive Services Task Force. Current methods of the U.S. Preventive Services Task Force: a review of the process. Am J Prev Med 2001; 20(3S):21-35. Krasner M, Epstein R, Beckman H, Suchman et al. [ciberindex.com]

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