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]

• Developmental Delay

  Related symptoms: Intellectual disability Seizures Global developmental delay Hearing impairment Growth delay SOURCES: ORPHANET ICD10 UMLS More info about CRANIOPHARYNGIOMA Top 5 symptoms//phenotypes associated to Hydrocephalus and Cerebral calcification [mendelian.co]

  del(7)(q36.1q36.3) speech delay, developmental delay, prominent forehead, upslanted palpebral fissures, bulbous nasal tip, high arched palate, flat feet q36.1 q36.3 case 3 D7S427 (7q36.3) was not deleted; Pappas et al., ASHG 2005, Program #599 Edit [chr7.org]

  It is characterized by congenital heart disease, short stature, a broad and webbed neck, sternal deformity, variable degree of developmental delay, cryptorchidism, increased bleeding tendency, and characteristic facial features that evolve with age. [aafp.org]

  Children grow rapidly in the first year eventually reaching the 90th percentiles in weight, height, and head circumference although neurologically they are developmentally delayed. Speech and walking may be delayed as well. [disorders.eyes.arizona.edu]

  Developmental delays : These include delays in the ability to roll over, sit, crawl, stand or walk. Your baby will almost always reach these milestones, just usually at an older age than most children. [childrenshospital.org]

• 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]

• 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

  Medical Term Other Names Description Pulmonary hypoplasia Lung hypoplasia, Hypoplastic lung, Underdeveloped lung [more] Abnormality of the foot Foot deformity, Foot deformities, Abnormality of the feet, Abnormal feet morphology [more] An abnormality of [rarediseases.oscar.ncsu.edu]

  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]

• Brachydactyly

  […] type A1C GDF5 Brachydactyly type A2 BMP2 Brachydactyly type A2 BMPR1B Brachydactyly type B1 ROR2 Brachydactyly type E1 HOXD13 Brachydactyly-mental retardation syndrome HDAC4 Brachydactyly-syndactyly syndrome HOXD13 Branchiooculofacial syndrome TFAP2A [centogene.com]

  Gray platelet syndrome Great vessels transposition Greenberg dysplasia Greig cephalopolysyndactyly syndrome GCPS Griscelli disease Grix Blankenship Peterson syndrome Gro-Gru Groll Hirschowitz syndrome Grosse syndrome Grover's disease Growth deficiency brachydactyly [wikidoc.org]

  Grix Blankenship Peterson syndrome Groenouw type I corneal dystrophy Groll Hirschowitz syndrome Grosse syndrome Group B strep disease in newborns Growth and mental retardation mandibulofacial dysostosis microcephaly and cleft palate Growth deficiency brachydactyly [personalizedcause.com]

  […] the cerebral white matter Polymicrogyria Retinal dystrophy Cerebellar vermis hypoplasia Frontal bossing Lissencephaly Holoprosencephaly Poor head control Cerebellar cyst Buphthalmos Renal cortical cysts Hypertelorism Cryptorchidism Neoplasm Epicanthus Brachydactyly [mendelian.co]

• Broad Nasal Bridge

  SHH duplicated Edit 226 3221208_1 46, XY, der(7)t(7;11)(q36.1p11.1) pat holoprosencephaly, omphalocele, dysmorphic features (bilateral cleft lip and palate, frontal bossing, microphthalmia, hypertelorism, large nose, broad nasal bridge, broad cheeks, [chr7.org]

  Systemic Features: The facial features are considered to be distinctive, characterized by a broad, square face, prominent forehead, broad nasal bridge, and midface hypoplasia. [disorders.eyes.arizona.edu]

  nasal bridge, microretrognathia, abnormal helices, and cleft palate. [en.wikipedia.org]

  Macroscopic appearance: external features: postnatal growth retardation, microcephaly, receding forehead, flat occiput, deep-set eyes, broad nasal bridge, low set ears, micrognathia, small tongue, short upper limbs, postaxial polydactyly of the left lower [atlases.muni.cz]

• 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]

• Incontinence

  […] diplegia Thickened calvaria Abnormality of the optic nerve Micrognathia Cleft palate Flexion contracture Abnormality of metabolism/homeostasis Cerebellar hypoplasia Agenesis of corpus callosum Polyhydramnios Celiac disease Patellar subluxation Urinary incontinence [mendelian.co]

  The spinal-cord abnormality usually results in defective nerve function below the level of the lesion; thus weakness or paralysis of the legs and urinary incontinence are common. [britannica.com]

  In the absence of a classic history, leakage associated with symptoms that increase abdominal pressure ( e.g., coughing, straining) would suggest urinary incontinence but can also be associated with pPROM. [glowm.com]

  […] chordee, feeding difficulties, failure to thrive, chronic otitis media, mild bilateral hearing loss, chronic upper respiratory tract infections, seizures, cortical visual impairment, microphthalmia, hypothyroidism, precocious puberty, bowel and bladder incontinence [chr7.org]

• Seizure

  Severe general learning disability, severe limitation of comprehension and speech, seizures, ataxic gait, hypotonia, muscle hypertrophy. [patient.info]

  Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Cognitive impairment SOURCES: OMIM UMLS MONDO MESH GARD More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH Medium [mendelian.co]

  Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. [disorders.eyes.arizona.edu]

  Symbol Name Synonyms Organism MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome Homo sapiens WikiGenes edit this page OMIM 300148 NCBI Gene 8422 NCBI UniGene 8422 Enhanced PubMed/Google query [ihop-net.org]

  These symptoms may include: Developmental delays in motor and language skills such as sitting up, walking, and talking Poor muscle tone, balance, and coordination Problems with eye movement, mainly jerky eye movement Vision and hearing impairment Seizures [childrensnational.org]

• Tremor

  […] lobe dementia Bone cyst Axonal loss Pathologic fracture Basal ganglia calcification Cerebral edema Senile plaques Primitive reflex Alzheimer disease Disinhibition Atrophy/Degeneration affecting the brainstem Agnosia Abnormal adipose tissue morphology Tremor [mendelian.co]

  Tetany of the newborn, a condition that appears within a few days after birth, is characterized by increased neuromuscular irritability, with muscular twitching, tremors, and convulsions. [britannica.com]

• Akinesia

  Hypoplasia of the brainstem Pterygium Cystic hygroma Anencephaly Fetal akinesia sequence Limb joint contracture Hydranencephaly Multiple pterygia Cognitive impairment Premature birth Delayed speech and language development Depressivity Oxycephaly Broad [mendelian.co]

  […] deformation sequence DOK7 Fetal akinesia deformation sequence RAPSN Fibrochondrogenesis type 1 COL11A1 Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly WNT7A FILS syndrome POLE Fraser syndrome FRAS1 Fraser syndrome FREM2 [centogene.com]

• Delayed Speech and Language Development

  speech and language development and Limitation of joint mobility, related diseases and genetic alterations [mendelian.co]

• Memory Impairment

  Pulmonary embolism Capillary hemangioma Heterochromia iridis Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Visceral angiomatosis Hemianopia Conjunctival telangiectasia Abnormal choroid morphology Obesity Recurrent infections Memory [mendelian.co]

• Cortical Tubers

  tubers Short philtrum Muscle weakness Migraine Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion Malignant neoplasm of the central nervous system High palate Macrotia Intellectual disability, moderate [mendelian.co]

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]