| Phenotype details |
severe; brachycephaly; low anterior hairline, widow's peak; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, gap between upper incisors, large incisors, no micrognathia/no retrognathia; short neck; macrostomia, spur on mandible xray ; cutis marmorata, hirsutism, nevus flameus; very small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; contractures of knees, flat feet; no caridac defects; genitourinary defect, cryptorchidism, genital hypoplasia; gastroesophageal reflux; feeding problems infancy, gastrostomy; hearing loss; no anomalies CNS; seizures ; intellectual disability, IQ<50; 13y-no speech; delayed motor development, not walking-13y; birth 39w, birth weight 1690g (SD -3), length 41cm (SD -4); no obesity |
