Acrodysostosis

Genetic Heterogeneity Underlying Familial Short Stature

“…Acrodysostosis involves skeletal characteristics, including short stature, facial dysostosis with nasal hypoplasia, and peripheral dysostosis, featuring severe brachymetatarsia, brachymetacarpy, brachydactyly, cone-shaped epiphyses, and advanced bone maturation. Additionally, there may be inconsistent resistance to various hormones, such as parathyroid hormone or thyrotropin, which is rare, and a frequent neurological involvement leading to mild to moderate intellectual disability [ 28 ]. PDE4D -related acrodysostosis includes acroscyphodysplasia, characterized by a typical knee appearance and a more severe prognosis [ 4 , 26 ].…”

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

“…Heterozygous mutations in PRKAR1A -coding for the regulatory subunit of the protein kinase A (PKA) -and PDE4D -coding for phosphodiesterase type 4 -have been found in patients with acrodysostosis (16,82,83). Acrodysostosis refers to a heterogeneous group of rare diseases characterised by skeletal dysplasia and characteristic features, including brachydactyly, facial dysmorphism and, in some cases, mental retardation (84,85,86,87,88). Acrodysostosis differs from PHP by more generalised osseous abnormalities (87,89).…”

“…Psychomotor and cognitive alterations have been described in about 40 to 70% of the patients with a maternal coding mutation of GNAS (25,34), as well as in some patients affected with acrodysostosis (83,85,86). Psychiatric manifestations have also been reported in these patients (102).…”

Coexistent pseudohypoparathyroidism and D brachydactyly in a family

“…It is impossible to settle whether this patient had E4B, PPH or AD. Robinow et al (1971) included this patient in their review of AD patients. The father and two brothers of this patient had D brachydactyly (DB).…”