The proband is a 2 years 9 months old male, product of the first and at this time only pregnancy of healthy non-consanguineous young parents (mother was 24 years-old and the father 25). He was born by caesarean at 40 weeks of gestation due to cephalopelvic disproportion, with a weight of 3150 g (>30th centile, ~ 0.5 SDS), length of 50 cm (>50th centile, ~ 0 SDS), head circumference of 35 cm (>60th centile, ~ 0.4 SDS), thoracic circumference of 36 cm (>85th centile, ~ + 1 SDS), abdominal circumference of 30 cm, but with hypotonia, dysmorphism, bilateral cryptorchidism, and transient tachypnea. At present time, a physical examination revealed the next auxological parameters: height 86 cm (1.4th centile, ~ − 2.3 SDS), weight 12.4 kg (18.4th centile, ~ − 1 SDS), and head circumference 48 cm (20th centile, ~ − 0.9 SDS). His craniofacial features included brachycephaly, flat occiput, punctiform posterior fontanel, bilateral frontoparietal hypertrichosis, short neck, low set ears rotated backwards, downslanted palpebral fissures, hypertelorism, thin upper lip, upwards labial commisures, depressed nasal root, broad nasal bridge, bulbous nasal tip, broad nasal ala, prominent colummela and smooth filtrum. Other phenotypic abnormalities included widely spaced nipples; high arched palate; hypertrichosis from dorsal to the sacral region; dermal hypermelanosis in the right scapular region; Clinodactyly and hypoplasia of the terminal phalanx of the fifth finger in both hands; broad first toes with dysplastic nails and deep creases on right foot plant; hyperplastic scrotum, right cryptorchidism and hypoplastic left testicle. Moreover, a murmur in aortic focus 2–4/6 was detected (but no echocardiographic evidence of heart anomalies). The family antecedents did not indicate any significant information and the mother denied complications during pregnancy or exposure to teratogens. The proband presents delayed psychomotor development: he was able to sit up at 12 months of age and to say monosyllables at 18 months of age, and he walked at 22 months of age. Currently the patient has no serious complications and he shows good reflexes and muscle tones, but he has a mild intellectual disability and lacks of speech.