Symptoma

Coffin-Siris Syndrome 4

CSS

Treatment Since this disease has such a variety of symptoms, treatment depends on the specific presentation in the individual. [verywellhealth.com]

Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J (2001) Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study. Am J Med Genet 99: 1-7. 6. [scitcentral.com]

In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. [jhu.pure.elsevier.com]

In the follow-up he presented a retroperitoneal neuroblastoma. Although this type of tumor has been referred to develop in several genetic and mutimalformative syndromes, it seems that present association has not been previously reported. [tandfonline.com]

  • Developmental Disabilities

    Among the range of symptoms that characterize it are developmental disability, physical abnormalities of the pinky toes and fingers, as well as a distinctive, “coarse” facial features, among others. [verywellhealth.com]

    disability"[6] short fifth digits with hypoplastic or absent nails low birth weight feeding difficulties upon birth frequent respiratory infections during infancy hypotonia joint laxity delayed bone age microcephaly coarse facial features, including [en.wikipedia.org]

    Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features. [ghr.nlm.nih.gov]

  • Poor Growth

    Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. [malacards.org]

  • Visual Impairment

    Subsequently, hearing impairment was found in 33%, while visual impairment was found in 75% of individuals with the ARID1A gene variation. [scitcentral.com]

  • Pointed Chin

    Physically, all individuals in a sample of 12 displayed hypertrichosis, thick eyebrows, long eyelashes, ptosis, thick lower lip vermillion, pointed chin (noted in older ages) and hypoplastic fifth digits. Occasionally, a cleft palate occurred. [scitcentral.com]

  • Language Delays

    Of the produced literature, it has been suggested children diagnosed with CSS display global developmental delays, language delays, gross- and fine-motor dysfunction, social-emotional challenges, behavioral difficulties and adaptive functioning [6-10,17 [scitcentral.com]

  • Hyperactivity

    For example, Mari et al. [7] suggested individuals with CSS may display aggressiveness, hyperactivity, psychosis and traits of ASD. [scitcentral.com]

Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]

Treatment Since this disease has such a variety of symptoms, treatment depends on the specific presentation in the individual. [verywellhealth.com]

Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual. [rarediseases.org]

(January 2018) Treatment[edit] There is no known cure or standard for treatment. Treatment is based on symptoms and may include physical, occupational and speech therapy and educational services as well. [en.wikipedia.org]

It may be beneficial for clinicians to remember the coexistence of genetic syndromes in patients diagnosed with ASD and to request consultations from relevant departments in terms of early diagnosis and treatment. [bibliomed.org]

Forms and Documents Test Details Clinical Utility: Identification of at-risk family members Assist with treatment/management decisions Recurrence risk assessment Ordering Preferred Specimen: 2-5 mL Blood - Lavender Top Tube Alternative Specimen: Buccal [genedx.com]

With the right medical team, prognosis can certainly improve and symptoms can be managed. As the medical establishment learns more about it—and especially as procedures like genetic testing become more advanced—the situation will only improve. [verywellhealth.com]

ARID1B gene mutation is thought to be involved in both Coffin-Siris syndrome and in the etiology of autism. [bibliomed.org]

The etiology of MRKH syndrome is unknown, but it is believed to be due to interrupted embryological development in weeks 8 to 12 of gestation. [jmedicalcasereports.biomedcentral.com]

During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential. [rarediseases.org]