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]

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]

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]

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 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]

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]

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]

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, 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]

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]

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]

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]

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]