Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). For an introduction to comprehensive genomic testing click here. [ncbi.nlm.nih.gov]

• Sudden Infant Death Syndrome

  Specialty Medical genetics Symptoms liver, brain and craniofacial abnormalities Complications Death Usual onset Birth Duration affected baby's entire life-span Causes Genetic mutation and Founder effect Differential diagnosis Microcephaly, Sudden infant [en.wikipedia.org]

  Their work has helped other people than the Amish - they discovered a gene that may cause sudden infant death syndrome (SIDS). [owlcation.com]

• Hepatomegaly

  Show allHide all Abnormality of limbs Limb hypertonia Abnormality of metabolism/homeostasis Lactic acidosis Abnormality of the digestive system Hepatomegaly Abnormality of the musculoskeletal system Axial hypotonia Flexion contracture Micrognathia Progressive [ncbi.nlm.nih.gov]

  […] birth, brain hypoplasia (underdeveloped brain), micrognathia (small chin), irritability (at second or third month of age), seizures, problems controlling their body temperature, high levels of alpha-ketogluraic acid in their urine,[2] and less commonly hepatomegaly [en.wikipedia.org]

  brain hypoplasia (underdeveloped brain), micrognathia (small chin), irritability, (at second or third month of age), seizures, problems controlling their body temperature, high levels of alpha-ketogluraic acid in their urine,[2] and less commonly. hepatomegaly [encycloreader.org]

  They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly). Affected infants may have seizures and difficulty maintaining their body temperature. [medlineplus.gov]

• Irritability

  /homeostasis Lactic acidosis Abnormality of the digestive system Hepatomegaly Abnormality of the musculoskeletal system Axial hypotonia Flexion contracture Micrognathia Progressive microcephaly Abnormality of the nervous system Cerebellar hypoplasia Irritability [ncbi.nlm.nih.gov]

  […] babies inside Old Order Amish communities in Pennsylvania Amish lethal microcephaly is a rare genetic disorder which is characterized by severe microcephaly (small head) from birth, brain hypoplasia (underdeveloped brain), micrognathia (small chin), irritability [en.wikipedia.org]

  Often they become very irritable starting in the second or third month of life. [medlineplus.gov]

• Neurologic Manifestation

  MANAGEMENT: Treatment of manifestations: Treatment is supportive only. Phenobarbital has been used to treat a few children with seizures. Physical therapy may alleviate contractures or other secondary neurologic manifestations. [ncbi.nlm.nih.gov]

• Global Developmental Delay

  COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 Is also known as ; Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Generalized hypotonia Feeding difficulties SOURCES: MONDO ORPHANET OMIM UMLS More info about COENZYME [mendelian.co]

  developmental delay 0011344 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 30%-79% of people have these symptoms Agenesis of corpus callosum 0001274 Limb hypertonia Increased muscle tone of arm or leg 0002509 Lissencephaly Fewer [rarediseases.info.nih.gov]

  In patients with microcephaly and global developmental delay, the prevalence of an underlying metabolic disorder ranges from 1–5% but evidence is limited due to the rare nature of most metabolic disorders [ 23 ]. [mdpi.com]

Any further studies and workup should be directed by the presence of signs or symptoms pointing to an underlying diagnosis and are usually used as confirmatory testing for certain conditions. [mdpi.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

MANAGEMENT: Treatment of manifestations: Treatment is supportive only. Phenobarbital has been used to treat a few children with seizures. Physical therapy may alleviate contractures or other secondary neurologic manifestations. [ncbi.nlm.nih.gov]

Prognosis Prognosis is very poor: the average life span of affected infants is between five and six months. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Microcephaly is a lifelong condition with no known cure. The prognosis is usually worse for children who experienced an intrauterine infection or have a chromosomal or metabolic abnormality. [mdpi.com]

Prognosis Prognosis is very poor: the average life span of affected infants is between five and six months. Last updated: 12/31/2010 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Prognosis. After the first two or three months of life, increasing irritability of unknown causes commonly develops [Kelley et al 2002]. [ncbi.nlm.nih.gov]

General pathology > Genetic and developmental anomalies > amish type microcephaly MIM.607196 17q25.3 Wednesday 11 May 2005 Synopsis severe congenital microcephaly 2-ketoglutaric aciduria Etiology mutations in the SLC25A19 gene (MIM.606521), which encodes [humpath.com]

The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. [books.google.com]

Etiology All affected infants are homozygous for the same mutation of the SLC25A19 gene on chromosome 17 (17q25.3). Genetic counseling The condition follows an autosomal recessive pattern of inheritance. [orpha.net]

Etiology Microcephaly has been stratified and studied differently based on the etiology and the timing of onset. [mdpi.com]

Summary Epidemiology It has been described only in the Old Order Amish of Lancaster County Pennsylvania. In this population, birth prevalence is about 1/500. [orpha.net]

Epidemiology It has been described only in the Old Order Amish of Lancaster County Pennsylvania. In this population, birth prevalence is about 1/500. [rarediseases.info.nih.gov]

"Methodologic issues in epidemiologic studies of congenital microcephaly". Early Hum Dev. 69 (1): 91–105. doi:10.1016/S0378-3782(02)00065-8. PMID 12324187. ^ Opitz, J. M.; Holt, M. C. (1990). [en.wikipedia.org]

J Clin Endocrinol Metab 93:2084–2088 CrossRef PubMed Google Scholar Werner ER, Blau N, Thöny B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology (review). [link.springer.com]

[…] atomic bombings, and after a year they found these children had a higher incidence of microcephaly and mental retardation.[56][55] Other relations[edit] Intracranial volume also affects this pathology, as it is related with the size of the brain.[57] Pathophysiology [en.wikipedia.org]

[…] genetics Symptoms liver, brain and craniofacial abnormalities Complications Death Usual onset Birth Duration affected baby's entire life-span Causes Genetic mutation and Founder effect Differential diagnosis Microcephaly, Sudden infant death syndrome Prevention [en.wikipedia.org]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]

Additionally, increasing resources are being made available for the prevention and research of Zika virus including mosquito prevention and identification, and limiting travel to highly endemic areas. [mdpi.com]