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. [semanticscholar.org]

What chromosomal disorder(s) can present with delayed or failed sexual maturation? 2. This syndrome presents with a prominent occiput, clenched fists and "rocker bottom feet". What are 2 complications that can cause death in these children? 3. [hawaii.edu]

These large calluses may also be present in flat bones [ 55 ]. [bmcpediatr.biomedcentral.com]

• 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]

  1985, Cong Anomal 25:181-90; MCN ID: 19910009-999 may be same patient or from same family; www.mcndb.org Edit 48 22565194 46,XX,del(7)(p15.3-p15.1).arr 7p15.3p15.1(20,469,062–30,5 82,316) 1 dn IUGR, feeding problems with episodes of cyanosis, failure [chr7.org]

• Large Ears

  References Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (1981) A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. [omicsonline.org]

  ear, mental retardation, hypertelorism, microcephaly, up-slanting palpebral fissures, low set ears, high vaulted and narrow palate q22.3 q32 MCN ID:19970149-224 reported in XiaJiaHui (Ed), et al. [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]

• Short Legs

  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]

  0001760 Symptoms via clinical synopsis from OMIM®: 57 (Updated 05-Apr-2021) H E E N T: hydrocephalus micrognathia patent aqueduct of sylvius Abdomen: omphalocele Growth: prenatal growth retardation G I: intestinal malrotation Skel: foot deformities short [malacards.org]

• Aggressive Behavior

  behavior Autistic behavior Neurological speech impairment Cerebellar atrophy Oculomotor apraxia Hypertonia Leukoencephalopathy Dystonia Thrombocytopenia Pneumonia Elevated hepatic transaminase Neurofibrillary tangles Paralysis Reduced bone mineral density [mendelian.co]

• Enlargement of the Liver

  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]

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]

Antenatal diagnosis and treatment of fetal goitrous hypothyroidism: case report and review of the literature. Ultrasound Obstet Gynecol 1995; 6:368-71 9. Hadi HA, Strickland RT. [books.google.de]

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]

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]

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 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]