Gómez-López-Hernández syndrome

Also known as: Cerebellotrigeminal-dermal dysplasia syndrome, Craniosynostosis-alopecia-brain defect syndrome

Definition

Orphanet

Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Alopecia Hair loss Loss of hair from the head or body.
Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Abnormality of the cerebellum Cerebellar anomaly, Cerebellar abnormality, Cerebellar signs [more] An abnormality of the cerebellum.
Low-set ears Melotia, Lowset ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Corneal opacity Reduction of corneal clarity, Corneal opacities, Corneal clouding [more] A reduction of corneal clarity.
Hyperactivity Hyperactive behavior
Self-injurious behavior Autoagression, Self-injurious behaviour, Self-harm [more] Aggression towards oneself.
Moderately short stature Short stature, moderate A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Bipolar affective disorder Bipolar disorder
Depressivity Depression, Depressive disorder Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Craniosynostosis Premature fontanel closure, Premature suture closure, Cranial suture synostosis, Craniosyostosis, Craniostenosis, Early fusion of cranial sutures, Deformity of the skull, Premature closure of cranial sutures [more] Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Cognitive impairment Abnormality of cognition, Cognitive abnormality, Intellectual impairment, Mental impairment, Cognitive deficits [more] Abnormality in the process of thought including the ability to process information.

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