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]

Pulmonary hypoplasia Radial bowing Frequently present symptoms in 30-79% of the cases: Abnormality of the foot Hydrocephalus Short lower limbs Occasionally present symptoms in 5-29% of the cases: Abnormal vertebral ossification Abnormality of fibula morphology [dovemed.com]

• 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]

• Anemia

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Hypokalemic Periodic Paralysis September [checkrare.com]

  Sleep disturbances (insomnia, hypersomnia, sleep apnea) High pain tolerance Hearing Impairment Anemia / Thalassemia (a form of anemia) Polythelia (the presence of supernumerary nipples) Inguinal hernia Precocious puberty Quick growing finger and toe nails [bohring-opitz.org]

  […] type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia type 14 with mandibulofacial dysostosis TSR2 DiGeorge syndrome TBX1 Donnai-Barrow syndrome LRP2 DOOR syndrome TBC1D24 Duane Retraction syndrome SALL4 Dysmorphism, HMG20B related HMG20B [centogene.com]

  Alzheimer disease Disinhibition Atrophy/Degeneration affecting the brainstem Agnosia Abnormal adipose tissue morphology Tremor Lack of insight Functional abnormality of the gastrointestinal tract Caudate atrophy Short stature Microcephaly Motor delay Anemia [mendelian.co]

  Most often, these are various autoimmune manifestations: [ 20, 21 ] hematologic (thrombocytopenia, anemia, neutropenia), celiac disease, insulin dependent diabetes, vitiligo, and, rarely, autoimmune dysthyrodism. [omicsonline.org]

• Weakness

  […] and paresthesia Chinese restaurant syndrome - headache and tingling or burning feelings and sweating caused by eating food that contains monosodium glutamate Conn's syndrome - disturbances in saltwater balance and symptoms of weakness and muscular cramps [thefreedictionary.com]

  Oxycephaly Broad forehead Dolichocephaly Astigmatism Psychosis Pointed chin Abnormality of the musculature Megalencephaly Scaphocephaly Patellar dislocation Decreased fetal movement Arthrogryposis multiplex congenita Cortical tubers Short philtrum Muscle weakness [mendelian.co]

  Such injuries include Erb’s paralysis, with weakness of the arm and shoulder because of damage to the fifth and sixth cervical nerves. [britannica.com]

  Membrane rupture usually occurs near the internal cervical os, but it may occur remote from that site. 9, 10 A number of mechanisms have been proposed for PROM. 11, 12, 13 These include intrinsic membrane weakness, mechanical stress, and ascending infection [glowm.com]

• Sepsis

  Regarding infectious morbidity, the antibiotic study group had a lower incidence of neonatal group B streptococcus sepsis (0 vs. 1.5%, p = 0.03), amnionitis (23 vs. 32.5%, p = 0.01), neonatal sepsis (8.4 vs. 15.6%, p = 0.009), and pneumonia (2.9 vs. 7.0% [glowm.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]

• Febrile Seizures

  […] upslanted palpebral fissures, downturned corner of mouth, bilateral cryptorchidism pter p22.1 TRIAD3/ C7orf28A 17163527 ~5-Mb duplication Edit 81 20181190 46,XY,upd(7)mat recessivecongenital myotonia, wide-based awkward gait, stiffness in lower limbs, 2 febrile [chr7.org]

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]

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]

The complications of Game Friedman Paradice Syndrome may include: Poor feeding and inability to thrive Severe respiratory distress Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

Other names Game-Friedman-Paradice syndrome Specialty Medical genetics Symptoms growth delays and brain-lung abnormalities Complications Incompatibility with life Usual onset neo-natal Duration - Causes Autosomal recessive inheritance Prevention none Prognosis [en.wikipedia.org]

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]

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 exact genetic cause of Game Friedman Paradice Syndrome is not known at the present time The condition is inherited in an autosomal recessive manner Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when [dovemed.com]

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]

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

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]

How can Game Friedman Paradice Syndrome be Prevented? Currently, Game Friedman Paradice Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] hypoplasia syndrome Other names Game-Friedman-Paradice syndrome Specialty Medical genetics Symptoms growth delays and brain-lung abnormalities Complications Incompatibility with life Usual onset neo-natal Duration - Causes Autosomal recessive inheritance Prevention [en.wikipedia.org]

The following tools may help you gather the information you need: Milestone Tracker App [CDC] Tracks a child's milestones from age 2 months to 5 years with Center for Disease Control and Prevention's (CDC) easy-to-use illustrated checklists. [rarediseases.info.nih.gov]

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]