In cases where it has been noted, head nodding is present. Hydrocephalus and enlargement of the ventricular system is consistently present. A reduced corpus callosum is present in some cases(agenesis of the corpus callosum). [en.wikipedia.org]

A patch of alopecia present above both ears. Table 1. [ncbi.nlm.nih.gov]

• Short Stature

  In addition, some unusual findings include seizures, growth hormone deficiency and short stature, and prominent behavioral and psychiatric problems (hyperactivity, depression, self-injurious behavior, and bipolar disorder). [pediatricneurologybriefs.com]

  We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature. [ncbi.nlm.nih.gov]

  Other features observed in patients were craniosynostosis midfacial hypoplasia bilateral corneal opacities low-set ears short stature moderate intellectual impairment and ataxia. [globalgenes.org]

• Corneal Opacity

  The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. [ncbi.nlm.nih.gov]

  Other features observed in patients were craniosynostosis midfacial hypoplasia bilateral corneal opacities low-set ears short stature moderate intellectual impairment and ataxia. [globalgenes.org]

  We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia [semanticscholar.org]

  Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. [jstage.jst.go.jp]

• Thin Lips

  lips (3) short stature (4) variable intelletual impairment (5) ataxia (6) strabismus (7) clinodactyly (8) corneal opacities (secondary to trigeminal anesthesia and repeated microtraumas) References: Gomez MR. [meducator3.net]

  Craniofacial features showing brachyturricephaly, low- set ears, thin lips, and hypertelorism. A patch of alopecia present above both ears. Table 1. [ncbi.nlm.nih.gov]

  People with Gomez-Lopez-Hernandez Syndrome often have a short skull(brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears. [en.wikipedia.org]

• Hyperactivity

  Hyperactivity first noted at 4 years of age was later associated with attention deficit disorder. Chromosomal analysis was normal. [1] COMMENT. The GLH syndrome is rare, only 8 cases reported. [pediatricneurologybriefs.com]

  Anaesthesia considerations include dealing with intellectual, psychiatric and behavioural problems such as hyperactivity, depression, self-injurious behaviour and bipolar disorder. [ai-online.info]

  Hyperactivity depression self-injurious behaviour and bipolar disorder have also been reported. [globalgenes.org]

  She had a history of motor delay, dysmorphic features, hyperactivity, unusual stereotypic movements of the head and self-injurious behaviour, facial scarring and parieto-occipital alopecia. [journals.lww.com]

• Hyperreflexia

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

  Within the complications, all patients had hyperreflexia and thrombocytopenia. 3 of them suffered headache. There was no previous preeclampsia, no nausea, jaundice, hematuria, or eclampsia. [dialnet.unirioja.es]

  […] cerebellar hemispheres 0006899 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Growth hormone deficiency 0000824 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperactivity More active than typical 0000752 Hyperreflexia [rarediseases.info.nih.gov]

• Cerebellar Ataxia

  Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis Publication History Issue online: 6 December 1998 Version of record online [onlinelibrary.wiley.com]

  كلمات كليدي: cerebellum, congenital, cranial nerve agenesis, ectodermal defect, ectodermal dysplasia, neurocutaneous syndrome, Cerebellar ataxia مخچه, مادرزادی, فقدان عصب, نقص اکتودرم, اکتودرمال دیسپلازی, سندرم neurocutaneous, آتاکسی مخچه موضوعات: Pediatrics [scipers.com]

Little immunologic investigations were performed in our first case; however, in-depth immunology workup ensued with the presentation of the sibling. [kundoc.com]

Treatment The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today’s pediatrics. [scielo.conicyt.cl]

The prognosis varies according to the presence and severity of the associated anomalies, both intra and su pratentorial. The oldest patient was 39 years old at the moment of the publication10. [scielo.cl]

Prognosis - Craniosynostosis alopecia brain defect Not supplied. [checkorphan.org]

Prognosis The oldest person who has been diagnosed with Gómez–López-Hernández syndrome was 29 years old at the time of his assessment in 2008. [owlapps.net]

Several strategies are possible: - either emergency surgical repair, in the hours following birth, in order to improve the prognosis of the disease - either gradual reintegration of the loops by the placement, in the ICU, of a silastic ("silo") armed [sites.uclouvain.be]

This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS. [ncbi.nlm.nih.gov]

ABSTRACT Gómez-López-Hernández syndrome or cerebellar-trigeminal-dermic dysplasia is a rare neurocutaneus syndrome, of unknown etiology. It consists of: rombencefhalosynapsis, trigeminal anesthesia and parietal or parieto-occipital alopecia. [medigraphic.com]

Epidemiology There have only been 35 reported cases (c. 2017) of Gomez-Lopez-Hernandez syndrome 3. History and etymology It is named after Manuel Rodríguez Gómez (1928-2006) and Alejandro Lopez-Hernandez. [radiopaedia.org]

Khoeiniha, Epidemiology of Cerebellar Disorders, Development of the Cerebellum from Molecular Aspects to Diseases, 10.1007/978-3-319-59749-2_21, (423-463), (2017) ., Developmental malformations, Neurocutaneous Disorders, 10.1016/B978-3-437-24286-1.00002 [doi.org]

[…] syndrome_x000D_ Craniosynostosis-alopecia-brain defect syndrome Name in a foreign language - Inheritance Not applicable CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis [mackeith.co.uk]

pathophysiology of spontaneous intracranial and intraspinal hemorrhage d) pathophysiology of hydrocephalus 6. [neurosurgery.ucla.edu]

• Newer MRI sequences may provide an insight in understanding disease pathophysiology and intricate brain networks involved. [neuroradiologycases.com]

The descriptions of the clinical conditions each systematically cover, as appropriate, epidemiology, prevalence, diagnostic criteria, clinical features (including course and prognosis), pathophysiology, genetics, investigations, differential diagnosis [mackeith.co.uk]

Although this is currently a rare disease with a bleak outcome, each case can present us with an opportunity to learn more about the true pathophysiology. [kundoc.com]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today’s pediatrics. [scielo.conicyt.cl]

Considerations for anaesthesia care are important in order to assess risks and prevent complications. We describe the case of a two-year-old full-term female child (weight 11.6 kg) referred for sedation for a brain MRI scan. [journals.lww.com]

Correct identification prevents unnecessary treatment to the areas of the scalp. Hair restoration surgery has been reported as a tool to treat this disorder. 6 [mdedge.com]

As soon as the baby is delivered, care management includes: - prevention of bacterial contamination, visceral injury and heat loss: the externalized abdominal content should be packed with warm sterile wet gauze sw wrapped in a plastic waterproof bag [sites.uclouvain.be]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]