Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. [doaj.org]

Slide 1 Everything You Need To Know About Content Marketing Hana Abaza, Director of Marketing at Uberflip @hanaabaza 1 WHY IT’S HOT Authoring – Create your content.… All About Beer PowerPoint Presentation Text Me: Do's & Don'ts of Presentation Design [docslide.net]

• Splenomegaly

  80%) HP:0002089 7 radial bowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002986 8 lower limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009816 9 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514 10 splenomegaly [malacards.org]

  […] fibula morphology Abnormality of the calf bone 0002991 Abnormality of the ribs Rib abnormalities 0000772 Abnormally ossified vertebrae Abnormal bone maturation of vertebra 0100569 Cerebral calcification Abnormal deposits of calcium in the brain 0002514 Splenomegaly [rarediseases.info.nih.gov]

• Developmental Disorder

  Orpha Number: 3035 Definition Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman- Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct [rareguru.com]

  […] in to get new information about "Growth delay-hydrocephaly-lung hypoplasia syndrome" New changes, new therapies, new information and news Definition Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental [retkebolesti.com]

  […] neck region 118254002 Disorder of body system 362965005 Respiratory finding 106048009 Finding of upper trunk 609623002 Congenital disease 66091009 Finding of trunk structure 302292003 Disorder by body site 123946008 Developmental disorder 5294002 Finding [findacode.com]

  Orpha Number: 3035 Definition Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct [malacards.org]

• Cheyne-Stokes Respiration

  Focus will include articles on CSA due to other Medical Disorders, Cheyne-Stokes Respiration, Central Sleep Apnea and Cardiovascular Disease, Complex Sleep Apnea,Adaptive servo-ventilation Treatment, Drug induced central apneas- Mechanism and Therapies [books.google.com]

• Failure to Thrive

  Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity [aafp.org]

  Failure to thrive: Children with the most serious lung problems are most likely to have growth problems. Because of their illness, they often require more calories than a normal baby in order to grow and get healthier. [childrenshospital.org]

  Hypotonia, hyporeflexia, failure to thrive, lethargy, and feeding difficulties are common in infants. Older individuals have REM sleep disturbances with self-destructive behaviors, aggression, inattention, hyperactivity, and impulsivity. [disorders.eyes.arizona.edu]

  Clinical Symptoms Feeding difficulties Failure to thrive Intrauterine growth restriction (IUGR) Severe/profound learning difficulties Recurrent infections Absences Seizures Apneas (suspension of external breathing) Craniofacial Symptoms Microcephaly [bohring-opitz.org]

  […] to thrive, microbrachycephaly, large anterior fontanel, hypertelorism, strabismus, nystagmus, broad nasal bridge, rounded nasal tip with anteverted nares, low-set ears, long philtrum, micrognathia, partial cleft palate, short webbed neck, broad distal [chr7.org]

• Foot Deformity

  deformities TERMUI T735945 T735946 TH OMIM (2013) ORD (2010) HAS MAPPING QUALIFIER Q000002 abnormalities MAPPED TO D019465 Craniofacial Abnormalities D005532 Foot Deformities, Congenital D006130 Growth Disorders D006849 Hydrocephalus D007422 Intestines [labs.tib.eu]

  […] morphology Abnormal feet structure Abnormality of the feet Abnormality of the foot Foot deformities Foot deformity [ more ] 0001760 Autosomal recessive inheritance 0000007 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Short lower limbs [rarediseases.info.nih.gov]

• Short Legs

  legs bowed tibias Pulmonary: hypoplastic multilobed lungs Clinical features from OMIM®: 236640 (Updated 05-Apr-2021) MalaCards organs/tissues related to Hydrocephalus with Associated Malformations: 40 Lung Articles related to Hydrocephalus with Associated [malacards.org]

  […] lower limbs Short legs 0006385 Showing of 19 | Last updated: 2/1/2021 Find a Specialist Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

• Bowing of The Long Bones

  58 31 occasional (7.5%) Occasional (29-5%) HP:0002982 15 abnormality of fibula morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002991 16 hydrocephalus 31 HP:0000238 17 bowing of the long bones 58 Very frequent (99-80%) 18 abnormality of the [malacards.org]

  Type IV OI (Moderate OI with short stature) These individuals typically have short stature, bowing of long bones, and vertebral fractures. Scoliosis and joint laxity may be present. [bmcpediatr.biomedcentral.com]

• Cerebral Calcification

  Diseases related with Hydrocephalus and Cerebral calcification In the following list you will find some of the most common rare diseases related to Hydrocephalus and Cerebral calcification that can help you solving undiagnosed cases. [mendelian.co]

  calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514 10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744 11 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582 12 abnormality of the ribs [malacards.org]

  calcification Abnormal deposits of calcium in the brain 0002514 Splenomegaly Increased spleen size 0001744 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Upslanted palpebral fissure Upward slanting of the opening between the eyelids 0000582 [rarediseases.info.nih.gov]

ICSD-2 and AASM Practice Parameters, Alternative approaches to treatment of Central Sleep Apnea, and Infant central apnea. [books.google.com]

Their adult height is normal as well. more ▾ less ▴ Waardenburg syndrome – Treatment There is currently no treatment or cure for Waardenburg syndrome. [wiki.cdv.demo.datexis.com]

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

Effective treatment thus can be initiated shortly after birth. [britannica.com]

Full title Growth delay-hydrocephaly-lung hypoplasia syndrome Synonyms Game-Friedman-Paradice syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal [retkebolesti.com]

Prognosis Frequently results in stillbirth or death within the first year. If patients survive beyond infancy, they have slow but constant progress in terms of development. [patient.info]

Ectopia cordis is quite rare and has poor prognosis. [atlases.muni.cz]

This is due to the variability of the results seen in fetuses with Patau. more ▾ less ▴ Weaver syndrome – Prognosis With appropriate treatment and management, patients with Weaver syndrome appear to do well, both physically and intellectually, throughout [wiki.cdv.demo.datexis.com]

Since there is a wide variety of signs and symptoms, treatment and prognosis for the condition vary greatly from person to person. [rarediseases.org]

The management adapted to each case is needed to improve the course and prognosis of these patients. [omicsonline.org]

Full title Growth delay-hydrocephaly-lung hypoplasia syndrome Synonyms Game-Friedman-Paradice syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal [retkebolesti.com]

In most cases the etiology is unknown, probably multifactorial. [atlases.muni.cz]

The etiology is an extra X chromosome. The most common chromosomal pattern is 47,XXY, but other variants can occur including 48,XXYY, 48,XXXY, and 49,XXXXY. [hawaii.edu]

Prenatal testing is possible where one parent is known to be a carrier of the condition. [ 6 ] Bergemann AD, Cole F, Hirschhorn K ; The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar21(3):188-95. [patient.info]

Etiology The cause of anencephaly is usually not known. The data suggest a polygenic or multifactorial etiology. Recognized associations include chromosomal abnormalities and mechanical factors. [nejm.org]

Growth delay-hydrocephaly-lung hypoplasia syndrome Synonyms Game-Friedman-Paradice syndrome Name in a foreign language - CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

Our knowledge of potential risks to the fetus and newborn, therefore, is based on case reports, epidemiologic surveys of exposed individuals, and animal studies. [pedsinreview.aappublications.org]

Incidence of cleft lip and palate in gorgan - northern iran: an epidemiological study. Oman Med J 2012 Nov;27(6):461-464. [omjournal.org]

The clinical experience and epidemiologic data can be used to estimate the anticipated incidence of anencephaly in the United States each year. [nejm.org]

Synonyms: chromosome 4p deletion syndrome, 4p- syndrome, monosomy 4p syndrome Wolf-Hirschhorn syndrome (WHS) is characterised by learning difficulties, epilepsy, growth delay and craniofacial dysgenesis. [ 1 ] Epidemiology The incidence is estimated at [patient.info]

The prevention of progressive damage is the goal of therapy. [britannica.com]

When the organs from the abdomen prevent the lungs from growing, the poor lung growth is called pulmonary hypoplasia. Healthy lungs have millions of small air sacs (alveoli), each of which resembles a balloon filled with air. [childrenshospital.org]

Prevention Genetic counselling will assess the risk to family members, based on the mechanism of origin of the deletion. [patient.info]

Obstet Gynecol 76:1051, 1990 75 Centers for Disease Control and Prevention: Prevention of group B streptococcal disease: A public health perspective. [glowm.com]

These can include omphalocele, where intestines, liver, and other organs develop outside of the abdominal wall, anal malformations, and intestinal malrotation, when intestines are twisted preventing passage of food. [rarediseases.org]