Geleophysic dysplasia (GD) is a rare, typically autosomal recessive genetic disorder characterized by short stature, joint stiffness, small hands, and feet with broad proximal phalanges, muscular pseudohypertrophy, and heart valve abnormalities. Facial features include a round face, narrow palpebral fissures, small nose with anteverted nostrils, broad nasal bridge, long flat philtrum, thin upper lip, and downturned mouth. Radiologic manifestations include delayed bone age, conical epiphysis, short tubular bones including fingers, and vertebral abnormalities [Allali et al., 2011; Le Goff et al., 2011]. The prevalence is unknown and only 55 patients have been reported. The diagnosis is primarily based on clinical and radiologic features, although two genes have been associated with the disease. Mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2) are associated with type I GD, which has autosomal recessive inheritance. Mutations in FBN1 (Fibrillin-1) are associated with type II GD, which has a dominant autosomal inheritance.[Le Goff et al., 2008; GeneReviews; Bader et al., 2010]. We report a 25-year-old male who was referred for consultation at the human reproduction and infertility center with a diagnosis of short stature. This work was approved by the Institutional Review Board of CMN “20 de Noviembre”, ISSSTE and the patient provided written informed consent. He was the eighth of eleven children born to nonconsanguineous parents. His mother, five siblings, and two nephews were also affected (Supplemental Fig. S1A). Perinatal care and birth history were not well documented. Only a low weight and short stature were noted at birth, but measurements were not available. At 20 years of age, the patient had onset of tonic–clonic seizures, which were treated with the carbamazepine. At 21 years of age, he sought evaluation for infertility. The physical examination showed a widow’s peak, widely spaced eyes, broad nasal base, broad nasal bridge, anteverted nostrils, long, flat philtrum, thin upper vermilion, and short thorax and limbs with apparent muscle hypertrophy, short fingers and feet (Supplemental Fig. S1B), a height of 136cm, an upper body length of 67cm, a lower body length of 69cm, upper to lower segment ratios (U/L segment) ¼ 0.9, and an arm span of 134 cm. The radiologic study showed several skeletal alterations (Supplemental Fig. S1C). Ophthalmologic evaluation showed hyperopic astigmatism and horizontal nystagmus and cardiology found a systolic murmur in the pulmonary area. The encephalogram exhibited high amplitude asymmetry and sharp waves in the right temporal region. A chromosomal analysis of the patient was conducted with peripheral blood lymphocytes using the GTG banding technique with a resolution of 400–450 bands, which was (46, XY). ADAMTSL2 mutational screening was undertaken. Five milliliters of peripheral blood was collected in EDTA. Genomic DNA was extracted from leukocytes using a salt extraction method [Miller