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

  Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, 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. [orpha.net]

• Malingering

  Citing Literature Number of times cited according to CrossRef: 17 Gustavo Malinger and Tally Lerman-Sagie, Cerebellar Anomalies, Obstetric Imaging: Fetal Diagnosis and Care, 10.1016/B978-0-323-44548-1.00037-1, (184-188.e1), (2018). [doi.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. [orpha.net]

  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]

• 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]

• Depressed Nasal Bridge

  nasal bridge Epicanthus Pain Frontal bossing Infantile onset Joint stiffness Craniosynostosis Difficulty walking Dolichocephaly Carious teeth Osteomalacia Exostoses Premature loss of teeth Upslanted palpebral fissure Hypoplasia of the maxilla High, narrow [mendelian.co]

  The cardinal features of this condition include craniosynostosis, severe mid-face hypoplasia, proptosis, choanal atresia / stenosis, frontal bossing, dysplastic ears, depressed nasal bridge, radiohumeral synostosis, long-bone fractures and femoral bowing [ihop-net.org]

• Hyperactivity

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

  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]

  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]

• 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]

• Behavior Problem

  Children with this syndrome should undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investingation, psychological testing, management of behavioral problems and genetic counseling. [ncbi.nlm.nih.gov]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment depends on the signs and symptoms present in each person. [malacards.org]

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]

[…] diagnosed mostly in poorer countries. [4] There have been no documented attempts made to educate children with the syndrome(when intellectual disability is present) to establish a baseline of intellectual ability due to these socioeconomic problems. [4] Prognosis [en.wikipedia.org]

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]

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]

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]

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]

[…] 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]

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]

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]

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