The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

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

The patients present with a prominent forehead, the nasal bridge is moderately flat, and the chest is narrow. Most of these signs may be present at birth. [journals.lww.com]

Here, we present two siblings whose phenotypes were extremely variable compared with the original descriptions of the syndromes associated with PTEN germline mutations. [degruyter.com]

• Trisomy 21

  Other Names & Coding Trisomy 21 Down's syndrome Translocation Down syndrome Mosaic Down syndrome ICD-10 coding Q90.0, trisomy 21, nonmosaicism (meiotic nondisjunction) Q90.1, trisomy 21, mosaicism (mitotic nondisjunction) Q90.2, trisomy 21, translocation [medicalhomeportal.org]

  21 (Down Syndrome) 1 in 733 (doesn't account for spontaneous abortion) Tri 21 Hall's criteria for Dx - Hypotonia - Poor moro reflex - Flat face - Upward slanted palpebral fissures - Small dysplastic features - Joint hyperflexibility - Short neck, loose [quizlet.com]

  His family history was significant for an older brother with trisomy 21 and macrocephaly in the father (head circumference of 61.5 cm (+4 SD)). No consanguinity was noted. [jmg.bmj.com]

• Heart Disease

  disease, esp AVSD (less commonly ASD/VSD) - hypothyroidism - megaloblastic luekaemia + lymphoproliferative disorders (solid tumoure rare in Tri21) - immune dysfunction - diabetes - hearing and vision problems - Alzheimer's disease-like dementia (4th [quizlet.com]

  Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. [rasopathiesnet.org]

  Chest Observe for signs of airway obstruction and or chronic lung disease. Heart Assess for murmurs, abnormalities in the first and second heart sound, or evidence of heart failure. [medicalhomeportal.org]

  Weill-Marchesani syndrome caused by FBN1 mutations consists of short stature, eye abnormalities, unusually brachydactyly, joint stiffness and heart disease [ 15 ]. [molecularcytogenetics.biomedcentral.com]

• Hepatomegaly

  Hepatomegaly may be seen with congestive heart failure. Due to low tone, a protuberant abdomen is common. Genitalia Assess Tanner stage. [medicalhomeportal.org]

• Visual Impairment

  Management of visual impairment may be complicated by the child's ability to tolerate glasses, patching, or other intervention. [medicalhomeportal.org]

  […] progressive degeneration) - Postaxial polydactyly - Hypogonadism - Renal failure - Mental retardation (not essential) 1 in 23,000 AR inheritance with multiple different genes can be responsible Feats (DEAF and BLIND): - sensorineural deafness - gradual visual [quizlet.com]

• Small Head

  Clinical clue: Children with autism and DYRK1A mutations have unusually small heads. Mutations in the gene DYRK1A underlie a unique form of autism in which individuals have unusually small heads. [spectrumnews.org]

  Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Other features may include excessive body hair and small hands and feet. [apraxia-kids.org]

  "Some of the children in our study started with a very small head size and later their growth accelerated. What we are looking for is disproportionate growth in children compared to the rest of their body. [sciencedaily.com]

  This means the baby’s head is extremely small compared to babies of the same age and sex. Head circumference growth charts for newborns, infants, and children up to age 20 years in the United States can be found on CDC’s growth charts website. [cdc.gov]

  (p13;�-s)(wcp 1-, 7-, 13-, 14-, 15-, 21-, 22-, D1Z3-, D1Z7-, all-α-s-, acrocentric �-s+) mat developmental delay, feeding difficulties, growth delay, triangular face, frontal bossing, broad small nose, down-turned mouth, small head, clinodactyly of 5th [chr7.org]

• Muscle Hypotonia

  Neurological examination demonstrated truncal hypotonia and increased muscle tone in the lower extremities. [clinchem.aaccjnls.org]

• Severe Short Stature

  For example, acromicric dysplasia caused by FBN1 mutations is characterized by severe short stature, short limbs, delayed bone age, stiff joints and facial dysmorphism [ 14 ]. [molecularcytogenetics.biomedcentral.com]

• Beaked Nose

  Lamboid/Coronal/Sagittal 22 - 39 months - Metopic 3 - 9 months 1 in 25,000 Branchial arch syndrome affecting FIRST branchial arch AD inheritance from mutations in FGFR2 and FGFR3 genes FACE ONLY affected (identical facial features to Apert's PLUS more beaked [quizlet.com]

• Phenylketonuria

  […] milestones Cerebral palsy Generalized delay in developmental milestones Mental retardation Maternal illness during pregnancy Intrauterine infection (e.g., rubella, toxoplasmosis, cytomegalovirus inclusion disease) Hearing loss, mental retardation Maternal phenylketonuria [aafp.org]

  Multiple interacting genetic factors underlie the cause of the majority of cases of ASD. 9 However, as many as 10% of cases are associated with a number of distinct genetic conditions including fragile X, tuberous sclerosis, phenylketonuria, Rett syndrome [jmg.bmj.com]

• Language Delays

  The maternal language environment of children with language delay. Br J Disord Commun. 1988;23:253–66. 16. Allen R, Wasserman GA. Origins of language delay in abused infants. Child Abuse Negl. 1985;9:335–40. 17. Bishop DV. [aafp.org]

  language delay, language delay, ID, DD, language delay, distinctive facial features, macrocephaly, ID, DD, ID, DD, ID, DD, seizures distinctive facial features, seizure macrocephaly Endocrine examine thyroid and growth hormone are normal NA thyroid [molecularcytogenetics.biomedcentral.com]

  Speech and language delays common. [apraxia-kids.org]

  Expressive language delay Features seen in the majority (60-80 percent) Advanced bone age (above 97th percentile) Premature tooth eruption, soft enamel Poor fine motor control Down-slanting palpebral fissues or “antimongoloid slant” (eye openings are [sotossyndrome.org]

  Primary languages. ESL children may have relative delay in English language acquisition. [learn.pediatrics.ubc.ca]

• Nystagmus

  She did not eat much during […] April 30, 2011 · PTENLife · No Comments Tags: Adenoidectomy, Bannayan Riley Ruvalcaba Syndrome, Congenital Nystagmus, Constipation, Early Intervention, Eye Issues, Failure to Thrive, Low Muscle Tone, Macrocephaly, PTEN [ptenlife.com]

  […] tantrums, irritability, stereotypies, inappropriate speech, withdrawal, hyperactivity) Features seen in the minority (under 50 percent) Hyperbilirubinemia (newborn jaundice) Persistent feeding difficulties and / or reflux Disclocated hips or club feet Nystagmus [sotossyndrome.org]

  The eye's disorders such as myopia, astigmatism, nystagmus or strabismus are characteristic and so are delayed teething and defects of dentition. [ispub.com]

  Mental retardation, delayed speech, obesity, craniofacial manifestations and ocular anomalies Yes MOMO (macrosomia, obesity, macrocephaly and ocular abnormalities) syndrome (OMIM #157980) Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus [raredr.com]

  Assess extra-ocular movements, ocular alignment, pupil response, and presence of nystagmus. Look for evidence of nasolacrimal duct obstruction or chronic blepharitis. Chest Observe for signs of airway obstruction and or chronic lung disease. [medicalhomeportal.org]

• Global Developmental Delay

  In patients with global developmental delay and concomitant macrocephaly, Sotos syndrome is not uncommon. [ncbi.nlm.nih.gov]

  Case Presentation Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. [molecularcytogenetics.biomedcentral.com]

  delay in receptive and/or expressive language skills with no delay in other developmental domains Global developmental delay Significant delay in two or more developmental streams as measured by appropriate standardized screening tests. [learn.pediatrics.ubc.ca]

  delay and Wilms tumor, in a constellation of findings they termed the “GLOW” (global developmental delay, lung cysts, overgrowth, and Wilms tumor) syndrome. [nature.com]

• Confusion

  This creates a problem for cases in which only one patient Key Takeaways First, a better naming system needs to be put in place to avoid duplicate naming and prevent confusion should a new cardinal features make an acronym irrelevant. [raredr.com]

  The use of different names can be confusing. The problem started when several different groups of physicians and researchers began describing collections of features they observed in their patients. [uihc.org]

  […] speech understood by strangers 4 to 5 years Six to eight words per sentence; names four colors; counts 10 pennies correctly Epidemiology Exact figures that would document the prevalence of speech delay in children are difficult to obtain because of confused [aafp.org]

  Confusing DS with another genetic syndrome is uncommon but can occur, since its features can overlap with other syndromes (e.g., Smith-Magenis syndrome, Noonan syndrome). [medicalhomeportal.org]

• Myelopathy

  Neurology See section on comorbid neurologic conditions (microcephaly, seizures, myelopathy). [medicalhomeportal.org]

Any signs of developmental regression should be regarded as a medical emergency and an urgent medical workup is indicated. [learn.pediatrics.ubc.ca]

In addition, his metabolic workup (acylcarnitine profile, serum amino acids, urine organic acids, and lactate) was unremarkable. [clinchem.aaccjnls.org]

A multidisciplinary expert panel developed an algorithm for the surveillance and screening of children for motor delays within the medical home, offering guidance for the initial workup and referral of the child with possible delays in motor development [pediatrics.aappublications.org]

While infants with benign macrocephaly will not require treatment and typically outgrow the condition by early childhood, treatment may be necessary in other cases. [medicalnewstoday.com]

A pharmaceutical alternative has recently become available for the treatment of basal cell carcinomas when standard treatment is no longer sufficient. These drugs are called «hedgehog inhibitors» (Box 2) ( 20 ). [tidsskriftet.no]

The treatment of emotional and behavioral problems. In: FXS: Diagnosis, treatment, and research, 3rd ed, Hagerman, RJ, Hagerman, PJ (Eds), Johns Hopkins University Press, Baltimore 2002. p.339-362 22. Lachiewicz AM, Dawson DV. [intellectualdisability.info]

Underlying conditions will require treatment. Benign extra-axial collection is a condition where there’s fluid in the brain. But this condition doesn’t require treatment because the amount of fluid is minor. [healthline.com]

Identifying genetic causes is critical to tailoring treatments to the child. [spectrumnews.org]

Prognosis For children with benign familial macrocephaly, the prognosis is excellent. These children usually do not have any complications and have normal intelligence. For other children with macrocephaly, the prognosis is dependent upon the cause. [healthofchildren.com]

Prognosis - Bagatelle Cassidy syndrome Not supplied. Treatment - Bagatelle Cassidy syndrome Not supplied. Resources - Bagatelle Cassidy syndrome [checkorphan.org]

Prognosis: Familial macrocephaly: normal neurological development. Secondary macrocephaly: depends on underlying condition. Unilateral or bilateral megalencephaly: developmental delay and intractable seizures. [fetalmedicine.org]

An incorrect diagnosis can have serious consequences for the patient in terms of follow-up and prognosis, and for the family with regard to inheritance and recurrence risk. [tidsskriftet.no]

Up to 10 percent of children with macrocephaly and autism may have a PTEN gene mutation that alters their prognosis and plan for preventive care. 2,3 In those with the Bannayan-Riley-Ruvalcaba syndrome phenotype, a proximal myopathy, joint hyperextensibility [consultqd.clevelandclinic.org]

Etiologic factors may be biological or socioenvironmental; in some cases, there may be combination of the two. The biological factors can be prenatal, perinatal, or postnatal. [mhmedical.com]

It can be said, however, that speech delay is a common childhood problem that affects 3 to 10 percent of children. 4 – 6 The disorder is three to four times more common in boys than in girls. 5, 7 Etiology Speech delay may be a manifestation of numerous [aafp.org]

An underlying etiology for developmental delay should be sought through attention to the following clues on history: Prenatal history Complications Prenatal diagnoses made (eg. Down Syndrome) Infections (eg. TORCH) Exposures (eg. [learn.pediatrics.ubc.ca]

When the underlying etiology of motor delays is genetic, early recognition may assist parents with family planning. [pediatrics.aappublications.org]

[…] deletion of maternally derived chromosome 15q11-q13 (approximately 70%–75%), mutations in UBE3A (approximately 10%), paternal UPD of chromosome 15 (approximately 3%–7%), an imprinting defect on the maternal chromosome (approximately 2%–3%), or unknown etiology [clinchem.aaccjnls.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

The UCLA-University of Utah epidemiologic survey of autism: Prenatal, perinatal and postnatal factors. Pediatrics, 86, 514–519. Google Scholar Schopler, E., Reichler, R. J., & Renner, B. R. (1986). [link.springer.com]

Affiliations Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA Nicholas E. Khan, Rosamma M. Decastro & Douglas R. [nature.com]

[…] strangers 3 to 4 years Three to six words per sentence; asks questions, converses, relates experiences, tells stories; almost all speech understood by strangers 4 to 5 years Six to eight words per sentence; names four colors; counts 10 pennies correctly Epidemiology [aafp.org]

The pathophysiology of CMTC is still unclear, with most cases occurring sporadically although rare cases were reported in families. [ijpd.in]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.de]

TABLE 1 Motor Milestones for Developmental Surveillance at Preventive Care Visits a Step 3a. [pediatrics.aappublications.org]

The UW researchers plan to further explore the implications of abnormal head size as part of a larger autism prevention study of 200 infants at high risk for the disorder that has just started. [sciencedaily.com]

Prevention - Bagatelle Cassidy syndrome Not supplied. Diagnosis - Bagatelle Cassidy syndrome There is no specific diagnostic test. [checkorphan.org]

References National Birth Defects Prevention Network. Major birth defects data from population-based birth defects surveillance programs in the United States, 2006-2010. [cdc.gov]