Gómez-López-Hernández syndrome (Cerebello-trigeminal dysplasia, Cerebello-trigeminal-dermal dysplasia)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Gómez-López-Hernández syndrome (cerebello-trigeminal dysplasia, cerebello-trigeminal-dermal dysplasia) is a rare genetic condition. It is generally considered a sporadic condition, with no established pattern of inheritance, so absence of a relevant family history would be expected. It affects males and females. A distinctive presentation may include the combination of bilateral parietal alopecia, rhombencephalosynapsis, and trigeminal sensory loss, particularly when accompanied by characteristic craniofacial abnormalities. Trigeminal sensory loss is variable, however, and may be absent.

It can present with psychiatric features such as hyperactivity/ADHD, depression, bipolar disorder, autism spectrum disorder (ASD), schizophrenia, obsessive-compulsive disorder (OCD), self-injurious behaviour and suicidal or aggressive behaviour. Psychiatric manifestations have been reported in older children, adolescents and adults, including cases in which psychiatric symptoms contributed to recognition of the underlying syndrome.

From a morphologic lens perspective, other features include (but are not limited to):

  • Microcephaly

  • Prominent forehead

  • Midface retrusion

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Low-set ears

  • Short nose

  • Smooth philtrum

  • Clinodactyly of fifth fingers

Other characteristic features include neurological manifestations such as hypotonia, motor delay, ataxia, dyspraxia, intellectual disability and seizures. Characteristic repetitive head movements or head shaking have also been reported. Structural CNS abnormalities include rhombencephalosynapsis, with absence or marked hypoplasia of the cerebellar vermis and fusion of the cerebellar hemispheres; ventriculomegaly and hydrocephalus are common, and other abnormalities including brainstem hypoplasia, absent or hypoplastic trigeminal nerves, and abnormalities of the corpus callosum or septum pellucidum have been reported. Trigeminal sensory impairment may result in reduced or absent corneal sensation, leading to recurrent painless corneal injury, corneal opacity and, in severe cases, serious ocular damage. Other reported features include craniosynostosis, brachycephaly or turricephaly, midface hypoplasia, strabismus, hypertelorism and short stature. The severity of cognitive and neurological impairment is variable, and individuals with relatively preserved cognition have also been described.

Early diagnosis is important to identify and manage neurological, developmental, ocular and psychiatric complications; recognise hydrocephalus and other structural brain abnormalities; provide appropriate developmental, educational and psychiatric assessment and support; and identify trigeminal sensory impairment so that appropriate measures can be taken to protect the cornea from potentially serious injury.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.