chromosome 1p36 deletion syndrome true MESH:C535362 subtelomeric 1p36 deletion This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities. Dysmorphic features include microcephaly, brachycephaly, large and late-closing anterior fontanelle, prominent forehead, straight (horizontal) eyebrows, deep-set eyes, short palpebral fissure, broad nasal bridge, midface hypoplasia, hypotonic facies, low-set abnormal ears, pointed chin and shortened hands and feet. Sensorineural hearing loss, skeletal, urogenital and cardiac defects may occur. Neuroimaging may show a range of structural brain abnormalities. Seizures occur in >50% of cases, typically starting in infancy or childhood with many types of seizures seen, including epileptic spasms, generalized and focal seizures. Seizures may cluster during febrile illness. Some patients may have Ohtahara syndrome. Seizure control is usually not difficult to achieve. Routine karyotype assessment may not allow diagnosis of this syndrome, FISH analysis with sub-telomeric region-specific probes or CGH microarray are usually necessary. 2015-09-28T17:14:10Z ORDO:1606 elvira NCI:C74983 deletion 1p36 1p36 deletion syndrome GARD:6082 UMLS_CUI:C1842870 OMIM:607872 DOID:0060410 monosomy 1p36 disease_ontology chromosomal anomaly