presenting with epilepsy2016 Author(s) M. [kaken.nii.ac.jp]

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

Case presentation A nine-year-old girl of Indian origin presented to our hospital with global developmental delay and failure to gain height. Her mother stated that she was late in sitting and standing compared to her siblings. [jmedicalcasereports.biomedcentral.com]

Fleck-BJ; Pandya-A; Vanner-L; Kerkering-K; Bodurtha-J Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study AMERICAN-JOURNAL-OF-MEDICAL-GENETICS. [malattierare.regione.veneto.it]

• Feeding Difficulties

  Also typical, mostly in infancy and childhood, are feeding difficulties. In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

  Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]

  She had feeding difficulties and recurrent respiratory infections. [neurologyindia.com]

  Feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, developmental delays, hearing loss, and intellectual disability may also be present [rarediseases.org]

  Other findings commonly include failure to thrive, feeding difficulties, frequent infections, short stature, hypertrichosis, sparse scalp hair, ophthalmologic abnormalities, microcephaly, brain malformations, speech delay and hearing loss, etc. [iamg.in]

• Short Stature

  Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]

  Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. [medlineplus.gov]

  It is also known as 'dwarfism onychodysplasia', 'fifth digit syndrome' or 'short stature onychodysplasia'. To date around 60 cases have been reported worldwide. [jmedicalcasereports.biomedcentral.com]

  Other findings commonly include failure to thrive, feeding difficulties, frequent infections, short stature, hypertrichosis, sparse scalp hair, ophthalmologic abnormalities, microcephaly, brain malformations, speech delay and hearing loss, etc. [iamg.in]

  Typical diagnostic features of this disease include the following: short stature, hypotonia, sparse scalp hair, coarse face, prominent eyebrows, a wide mouth, delayed bone age, and hypoplastic or absent nails and fingertips of the fifth digits.[3],[4] [neurologyindia.com]

• Weight Gain

  First Visit When she was five months old, she visited the hospital for her poor weight gain and neurodevelopmental delay. [3billion.io]

  Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory [rarediseases.org]

• Hirsutism

  Figure 1 Hirsutism of our patient. Full size image Figure 2 Hypoplastic nail of the fifth finger. [jmedicalcasereports.biomedcentral.com]

  Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. [medlineplus.gov]

  Minor findings include- 1) ectodermal findings like hirsutism, sparse scalp hair, dental anomalies; 2) constitutional findings like intrauterine growth retardation (IUGR), short stature, microcephaly, failure to thrive, frequent infections; 3) organ related [iamg.in]

  […] involves multiple congenital malformations, including lax joints, growth retardation, and hypoplastic fifth fingertips and nails.[1] Later, studies found that the primary features associated with CSS were a global developmental delay, a coarse face, hirsutism [neurologyindia.com]

• Coxa Valga

  Additional abnormalities may include dislocation of the inner forearm bone (radius) at the elbow, deformity of the hip (coxa valga) or unusually small or absent kneecaps (patellae). [rarediseases.org]

• Coarse Face

  She showed hypotonia, coarse face, thick eyebrows, long cilia, a flat nasal bridge, a broad nose, a wide mouth, a high palate, and short fifth toes. He displayed seizures twice. [neurologyindia.com]

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

• Delayed Bone Age

  bone age, and hypoplastic or absent fifth fingers/toes or nails, together with developmental delay. [neurologyindia.com]

  In addition, affected infants and children may have hypotonia, abnormally loose joints, delayed bone age (2 to 3 years behind the chronological age) and mild to severe intellectual disability. [rarediseases.org]

  In many cases spinal abnormalities have been recognized: spina bifida, scoliosis, kyphosis and delayed bone age. Less frequently, there occur blepharoptosis or macroglossia. [ispub.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Management and treatment Treatment is essentially supportive and symptomatic. Occupational, physical and speech therapy are recommended. [orpha.net]

Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. [rarediseases.org]

After diagnosis, she is currently undergoing rehabilitation treatment for her developmental delays. Stay tuned for 3billion’s next 'My Odyssey' series. We will deliver more diagnostic stories of patients diagnosed with us. Thank you. [3billion.io]

After 7 days of starting the treatment (DOTS regimen), she noticed yellowish discoloration of sclera, orange discoloration of urine but in spite of this she continued the drug for a further two weeks. [scilit.net]

Prognosis The prognosis is poor in severely affected individuals, with aspiration pneumonia and seizures reported in childhood. Association of tumor development including schwannomatosis has been reported. [orpha.net]

Etiology Heterozygous mutation or genomic rearrangement in the following nine genes have been reported to be causative for CSS (highest to lowest proportion of reported cases): ARID1B (6q25.3), SMARCA4 (19p13.3), SMARCC2 (12q13.2), ARID1A (1p36.11), SOX11 [orpha.net]

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]

Summary Epidemiology More than 150 cases of genetically confirmed Coffin-Siris syndrome (CSS) have been clinically reported to date. Exact prevalence and incidence are not known but the disorder is probably under-recognized. [orpha.net]

SMARCB1, and SMARCE1 have been proven in subjects with clinical phenotypes in agreement with CSS.[7],[8] Variations in the ARID family members (ARID1A, ARID1B, and ARID2) are more prevalent than in the other members.[9],[20] Variations in ARID1B are an epidemiologically [neurologyindia.com]

Coffin Siris Syndrome Dandy Walker Syndrome - Information / Diagnosis / Treatment / Prevention Dandy Walker Homepage ASBHA homepage Hydrocephalus, Family Guide to Neuromedicine Dandy-Walker syndrome (www.whonamedit.com) Print Manager Health Library - [drdiag.hu]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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]