Temple-Baraitser syndrome
MONDO:0012735
A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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KCNH1-related disorders
KCNH1-related disorders are caused by gain-of-function mutations in the gene KCNH1. KCNH1-related disorders are classified as a neurodevelopmental disorder and are characterized by intellectual disability, seizures, and developmental delay. Severity of symptoms are on a wide spectrum, and many individuals also have low muscle tone as babies, distinctive facial features, nail abnormalities, hair overgrowth, and gum overgrowth. The majority of individuals with KCNH1-related disorders have a non-familial (de novo) mutation in the voltage-gated potassium channel subfamily H member 1 (KCNH1) gene that causes the voltage-gated potassium ion channel KCNH1 encodes for, Kv10.1, to be overactive in neurons of the brain. Many individuals are not diagnosed until after they begin to have seizures or miss developmental milestones, and diagnosis requires genetic sequencing. No cure for KCNH1-related disorders is currently available, and treatment focuses on alleviating symptoms. Some individuals achieve seizure control using existing anti-seizure medications. One phenotype is called Temple–Baraitser syndrome (TBS), a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features. Other phenotypes are called Zimmermann–Laband syndrome type 1.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.