Symptoma

Cerebellotrigeminal Dermal Dysplasia

Cerebellotrigeminal-Dermal Dysplasia Syndrome

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]

  • 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. [ncbi.nlm.nih.gov]

    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]

    Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and corneal opacities. [read.qxmd.com]

    posteriorly rotated ears Aplasia/Hypoplasia affecting the eye Tetany Retinal dystrophy Dilatation Microcornea Retinal detachment Iris coloboma Abnormality of the cerebral white matter Muscular dystrophy Microtia Glaucoma Agenesis of corpus callosum [mendelian.co]

  • 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]

  • Short Nose

    nose Broad thumb Hypertelorism Downslanted palpebral fissures Wide nasal bridge Triangular face Myopathy Abnormality of the dentition Thin vermilion border Failure to thrive Hearing impairment Muscular hypotonia of the trunk Rare Symptoms - Less than [mendelian.co]

    Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia. [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]

    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]

    […] cases Short stature Prominent nasal bridge Feeding difficulties Anteverted nares Nystagmus Thin upper lip vermilion High palate Cerebellar atrophy Growth delay Postnatal growth retardation Aggressive behavior Long philtrum Upslanted palpebral fissure Hyperactivity [mendelian.co]

  • Cognitive Impairment

    Treatment depends on the signs and symptoms present in each person. 0002293 Ataxia 0001251 Brachycephaly Short and broad skull 0000248 Cerebellar vermis hypoplasia 0001320 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects [rarediseases.info.nih.gov]

    impairment Pica Hyperglycinuria Seborrheic dermatitis Elevated hepatic transaminase Dilatation Macrocephaly Ventriculomegaly Hyperreflexia Myopathy Diffuse cerebral atrophy Aspiration Autism Encephalopathy Diarrhea Delayed speech and language development [mendelian.co]

    Prevalence of cortical superficial siderosis in patients with cognitive impairment. J Neurol. 2014 Feb;261(2):277-82. doi: 10.1007/s00415-013-7181-y. Epub 2013 Nov 13. Gürkov R, Kantner C, Strupp M, Flatz W, Krause E, Ertl-Wagner B. [klinikum.uni-muenchen.de]

  • 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 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]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

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]

A-pattern strabismus has been reported in association with rhombencephalosynapsis in 3 patients who did not have focused imaging of their orbits. 4 Most orbital bands cannot be accessed during conventional strabismus surgery, but there have been reports of treatment [jamanetwork.com]

[…] 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]

[…] aqueductal stenosis was present in 22 of 42 subjects and was strongly associated with the degree of cerebellar fusion  Other less common reported causes of hydrocephalus include: thalamic fusion and obstruction of 4 th ventricle by cerebellar tissue Prognosis [slideplayer.com]

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]

[…] sometimes present — can lead to dangerous behavior or outbursts. [4] While most people with Gomez-Lopez-Hernandez Syndrome show moderate intellectual disability, one case (age 14) has resulted in normal learning and social skills without intervention. [4] Epidemiology [en.wikipedia.org]

Etiological factors of childhood ischemic stroke depend on the epidemiological context. [pubfacts.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]

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]

[…] syndrome type I, type II, type III and type IV Disease name: Welander distal myopathy ICD 10: G71.0 Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type Similar articles: Naegeli-Franceschetti-Jadassohn Syndrome: Background, Pathophysiology [syndrome.medicclub.info]

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]

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]

Images