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Targeted syndrome under study:

Acrodysostosis (OMIM 101800 614613 or ORPHA code 950)

Abstract

Acrodysostosis is rare skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis with nasal hypoplasia, cone-shaped epiphyses, hormonal resistance (usually thyrotropin or parathyroid hormone), and intellectual disability (ORPHA:950). Being a rare disease with less than 80 cases described worldwide, this study aims to complete the spectrum of clinical presentations, strengthen or document new genotype-phenotype correlations, and describe how this condition is managed.

We are looking for patients with mutations in the PRKAR1A (iPPSD4) and the PDE4D (iPPSD5) genes to perform a retrospective clinical and molecular data analysis. The data we want to collect includes the patient’s phenotype, genotype, comorbidities, and management.

This investigation is centered around expanding the phenotypic spectrum of variants and documenting the management of this disease to bolster knowledge and promote evidence-based practice.

Coordinating clinician

André Travessa – AT1@edu.ulisboa.pt

Institution

Department of Medical Genetics, Hospital Santa Maria, Lisbon

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: No