In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II (Hunter syndrome). Vestronidase alfa (Mepsevii) is a recombinant human lysosomal beta glucuronidase for MPS VII (Sly syndrome) approved in the United States in November 2017 (Ultragenyx).Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling. See also
Alder-Reilly anomaly — a morphologic abnormality of white blood cells associated with mucopolysaccharidosis
Lysosomal storage disease

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Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the knee). Symptoms and signs
Clinical expressions of PPS are highly variable, but include the following:
Limb findings: an extensive web running from behind the knee down to the heel (90%), malformed toenails, and webbed toes. Facial findings: cleft palate with or without cleft lip (75%), pits in the lower lip (40%), fibrous bands in the mouth known as syngnathia (25%), and tissue connecting the upper and lower eyelids
Genital findings (50%): hypoplasia of the labia majora, malformation of the scrotum, and cryptorchidism. Genetics
The genetic locus for PPS was localized to chromosome 1 in 1999. The disorder is inherited in an autosomal dominant manner and is due to mutation of the IRF6 gene. Most reported cases are sporadic; advanced parental age is found in a number of these cases, suggesting new mutations.The term PPS has also been used for two rare autosomal recessively inherited conditions: Lethal PPS and PPS with Ectodermal Dysplasia. Although both conditions feature a cleft lip/palate, syngnathia, and popliteal pterygium, they are clinically distinguishable from the autosomal dominant case.