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]

We report the second case with this condition who presented with consanguineous parents. This boy was evaluated shortly after birth because of suspected craniosynostosis. [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]

• Partial Alopecia

  Abstract Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome char- acterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. [jstage.jst.go.jp]

  Based on literature and our experience, we propose the presence of trigeminal anesthesia and/or partial alopecia of the scalp to complete the diagnosis of the syndrome. [ncbi.nlm.nih.gov]

• Low-Set Posteriorly Rotated Ears

  He had brachyturricephaly, midface retrusion, low‐set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. [doi.org]

  He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH. [ncbi.nlm.nih.gov]

  posteriorly rotated ears) [medifind.com]

  posteriorly rotated ears) Last updated: 5/13/2015 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

• 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]

  opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010). (601853) Wikipedia : 77 Gomez-Lopez-Hernandez syndrome (GLH) or cerebellotrigeminal-dermal [malacards.org]

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

• Head Banging

  Head banging and head rocking, and other self-injurious behavior may occur as a result of pain insensitivity. Psychiatric problems may lead to increased risk of suicide. MRI is preferable to CT in demonstration of the cerebellar anomaly. [pediatricneurologybriefs.com]

• 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]

  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]

  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]

  lip * Widely-spaced eyes * Smooth philtrum * Ear abnormalities * Inability to detect pain sensation on skin * Anteverted nostrils Causes - Craniosynostosis alopecia brain defect Not supplied. [checkorphan.org]

• Mask-like Facies

  facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Telecanthus Corners of eye widely separated 0000506 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Toenail dysplasia Abnormal [rarediseases.info.nih.gov]

• 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]

  Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. [orpha.net]

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

• Global Developmental Delay

  ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES: [mendelian.co]

  developmental delay 0001263 Malar flattening Zygomatic flattening 0000272 Rhombencephalosynapsis 0031913 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Trigeminal anesthesia 0031912 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]

• Insomnia

  Gomez-Lopez-Hernandez Syndrome is associated with irritability, anxiety, insomnia, and self-harming behavior. Developmental disabilities often present as intellectual disability with social, occupational, and learning disabilities. [en.wikipedia.org]

  Behavioral Gómez–López-Hernández syndrome is associated with irritability, anxiety, insomnia, and self-harming behavior. Developmental disabilities often present as intellectual disability with social, occupational, and learning disabilities. [owlapps.net]

• 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]

  […] 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]

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]

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]

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]

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]

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