The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary ... The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate (summary by Wang et al., 2009).
Young et al. (1985) described a 2.75-year-old Caucasian girl with feeding problems in infancy, hiatal and inguinal hernias, left exotropia, lacrimal duct atresia, and short achilles tendons. She had generalized hypotonia and was unable to sit, with obvious ... Young et al. (1985) described a 2.75-year-old Caucasian girl with feeding problems in infancy, hiatal and inguinal hernias, left exotropia, lacrimal duct atresia, and short achilles tendons. She had generalized hypotonia and was unable to sit, with obvious developmental delay. Her head circumference was in the 70th centile, and she had a dolichocephalic cranium, low temporal hairline, lateral widening of eyebrows, large ears with prehelical and lobar pits, mild enophthalmos, upslanting palpebral fissures, epicanthic folds, broad nose, long philtrum, narrow palate, and missing upper lateral incisors. She also had short hands, single palmar creases, ulnar deviation of the second fingers, and small, concave nails; her great toes were long with valgus deviation, and she had right partial 2/3 syndactyly. Slater et al. (1988) described a 9-month-old male infant who was born with head circumference in the third centile, micrognathia, high-arched palate, shallow philtrum, narrow vermilion border of the upper lip, short neck, undescended testicles, long slender fingers, long flat feet with prominent heels, and a pigmented nevus on the thigh. At 9 months of age, his height, weight, and head circumference were all below the third centile, there was obvious psychomotor retardation; additional findings included horizontal palpebral fissures, hypotelorism, and a strange, laugh-like cry. Gershoni-Baruch et al. (1996) reported a 2-year-old Arab Moslem boy who was initially seen at 8 months of age for developmental delay, postnatal growth failure, and facial anomalies that included deep-set eyes, small palpebral fissures, hypotelorism, nystagmus, blue sclerae, mongolian slant, mild synophrys, posteriorly rotated low-set ears with large pinnae, low frontal hairline, slender nose with small anteverted nostrils, flat maxillae, high-arched palate, micrognathia, short frenulum, and broad short neck. He had a single palmar crease, hyperextensible fingers and wrists, 2/3 and 4/5 skin syndactyly of fingers and 2/3 syndactyly of toes, club feet, hyperelastic and redundant skin, umbilical hernia, right inguinal hernia, micropenis, and left undescended testis. In addition to global developmental delay, there was generalized hypotonia. Kumar et al. (1997) reported an 8-year-old boy with a known interstitial deletion of chromosome 6q, who at birth was noted to have mild facial asymmetry, large low-set ears with auricular pits, bifrontal narrowing of the forehead, prominent occiput with dolichocephalic skull shape, wide bulbous tip of nose, elongated philtrum, high-arched palate, bilateral single palmar creases, long tapered digits, bilateral cryptorchidism, subluxation of the hips, and hypermobility of all large joints. At 8 years of age, he exhibited significant hypotonia and psychomotor delay. Wang et al. (2009) described 7 patients with chromosome 6q11-q14 interstitial deletions, 3 of whom were from the same large pedigree. Features consistent with previous reports included hypotonia, upslanting palpebral fissures, low-set and/or dysplastic ears, high-arched palate, single palmar creases, and umbilical hernia; however, less than 30% of these patients displayed other typical features such as epicanthic folds, hypertelorism, short nose, broad nasal tip, long philtrum, thin upper lip, strabismus, short neck, and scoliosis, which were shared by over 50% of previously reported patients.