(+/-) Inconstantly Present Feature/ Rarer Feature

Additional file 1: Schematic overview of major features of novel syndromic conditions discussed in this paper. For a more detailed description of each syndrome, refer to the text.

Syndrome 1p36 microdel 2q23.1 microdel 2q37 del 7q11.3 microdup 15q13.3 microdel 16p11.2 microdel 17q21.31 del 22q11.2 microdup Tower skull, prominent forehead, large and Hypertelorism, Long face High forehead, late closing upslanting high/broad superior placement Prominent anterior fontanel, palpebral fissures, forehead, of eyebrows, forehead, unusual Flat and hypotonic straight eyebrows, prominent upslanting hypertelorism, eyebrow pattern, Short philtrum, facies, deep-set deep-set eyes, flat philtrum with full palpebral fissures, epicanthal folds, Dysmorphisms Coarse facies prominent thin lips, straight eyes, low-set and nasal bridge with everted lips, and “tubular” or “pear broad nasal bridge, columella, eyebrows, posteriorly rotated midface short and/or shaped” nose with bulbous nose, malformed or ears, thin upper lip hypoplasia, curved fifth finger bulbous tip, smooth philtrum, protruding ears abnormal ears, and short fourth anteverted and dysplastic large brachydactyly/cam metacarpals large ears hears ptodactyly, and short feet Normal IQ – Normal IQ – DD/MR Moderate - severe Severe All degrees All degrees Mild - moderate All degrees Severe DD/MR Severe DD/MR Hyperactivity, Autism or autistic Severe speech Expressive Psychiatric Speech delay, aggressive features, Behavioral delay, stereotypic Autism or autistic language disorder, disorders, speech stereotypies, outbursts, schizophrenia, Friendly behavior phenotype behaviors, altered like behaviors autism, dyslexia, delay, learning ADHD hyperphagia, other psychiatric sleep pattern ADHD disabilities speech delay disorders Epilepsy + + + / - - + + / - + + MRI + - + / - + (non specific) - + / - + / - +/ - abnormalities Microcephaly/ brachycephaly; Craniofacial large anterior Microcephaly - Dolichocephaly Non specific Macrocephaly + + abnormalities fontanel. Oropharyngeal dysphagia Albright Scheletrical + / - - phenotype, + / - + / - + + - abnormalities brachidaptily Gastrointestinal + - + + - + / - + + / - abnormalities Genitourinary - - + + - - + + abnormalities Cardiac defects + - + + - + / - + + Others Hearing Broad-based gait Hypotonia - Oromotor Frequent ear Early severe Joint hyperlaxity, impairment, growth hypotonia, nasal impairment, speech, abnormal hypotonia, motor dyspraxia infections hypotonia, muscle ectodermal impairment hypotrophy, poor structures coordination

(+) present feature;

(-) absent feature;

(+/-) inconstantly present feature/ rarer feature.

ADHD: Attention-deficit/hyperactivity disorder; DD: developmental delay; IQ: intelligent quotient; MR: mental retardation.