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

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]

• Splenomegaly

  […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Growth delay Failure to thrive Hepatomegaly Cerebral atrophy Coma Lethargy Ataxia Strabismus Recurrent infections Hypoglycemia Microcephaly Feeding difficulties Absent speech Splenomegaly [mendelian.co]

• Short Stature

  Dysmorphic features included mediofacial hypoplasia, downslanting palpebral fissures and short stature. Anaesthetic management plan was to provide sedation with intravenous infusion of propofol and, if needed, general anaesthesia. [journals.lww.com]

  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]

• Foot Deformity

  The fetal gender was indeterminate.An autopsy was declined but physical examination ofthe stillborn baby revealed length 36 cm (cerebral tissue but the presence of a falx, flexion defor-mities at the wrist, club foot deformities, absence ofossification [documents.tips]

• 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]

  Trigeminal anaesthesia can cause repeated unaware injuries which can lead to forehead scarring, corneal opacities and phthisis bulbi in severe cases. [casereports.bmj.com]

  Other abnormalities seen in both patients were midfacial hypoplasia, bilateral corneal opacities, low-set ears, mental retardation and short stature. This disorder could be a new neurocutaneous syndrome. [doi.org]

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

• Retinal Pigmentation

  pigmentation Peripheral demyelination Mucopolysacchariduria Retrocerebellar cyst Hypospadias Enuresis Abnormality of cardiovascular system morphology Dilatation Headache Vomiting Abnormality of the clavicle Atrial septal defect Villous atrophy Speech [mendelian.co]

• Thin Lips

  lips high arched palate low-set, rotated ears strabismus intellectual impairment ataxia seizures short stature and/or HGH deficient Emma exhibits ALL of these except for 3, 10, 13, and 15. [planetemmaclarissa.blogspot.com]

  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]

  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]

• Hyperactivity

  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]

  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]

• 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]

• Tremor

  Respiratory distress Nausea and vomiting Eczema Anorexia Congenital lactic acidosis Dysarthria Tics Tremor Blindness Areflexia Dysmetria Postural instability Cortical visual impairment Intrauterine growth retardation Polycystic ovaries Partial agenesis [mendelian.co]

  Since the beginning of breastfeeding, the patient showed “no-no” head tremors, which were frequent and persistent. [scielo.cl]

  […] tract, trainer, trait, transaminase, transcobalamin, transfer, transferase, transfusion, transgrediens, transient, translocase, transpeptidase, transplant, transplantation, transport, transporter, transposition, transverse, trauma, traumatic, treatment, tremor [rapsodyonline.eurordis.org]

• Dysarthria

  Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Dysarthria and Pheochromocytoma, related diseases and genetic alterations Motor delay and Ophthalmoplegia, related diseases and genetic [mendelian.co]

  […] duane-radial, dubin-johnson, dubowitz, duct, ducts, ductus, due, dumoulin, dundar, dungan, dunnigan, duodenal, duplication, duplication, duplication, duplications, dupont, dupuytren, dural, during, dwarfism, dyad, dyggve-melchior-clausen, dykes-markes-harper, dysarthria [rapsodyonline.eurordis.org]

• Cerebellar Ataxia

  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]

  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]

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]

[…] and treatment 3. [neurosurgery.ucla.edu]

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]

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

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]

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]

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]

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]

Full title Gómez-López-Hernández syndrome Synonyms Cerebellotrigeminal-dermal dysplasia syndrome_x000D_ Craniosynostosis-alopecia-brain defect syndrome Name in a foreign language - Inheritance Not applicable CONTENT INFORMATION Textual description Etiology [retkebolesti.com]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

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]

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]

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]

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]

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]

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]

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]

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]