Living with achondroplasia – some medical and social aspects

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Article Title:	Living with achondroplasia – some medical and social aspects
Authors:	Simona Dumitra, Sabina Morgovan, Andreea Dupta, Otilia Marginean
Affiliation:	”Vasile Goldis” Western University, Department of Paediatrics, Arad County Emergency Hospital, Department of Paediatrics, Arad ”Luis Turcanu” Children Hospital, Timisoara
Abstract:	Achondroplasia is a rare autosomal dominant genetic disease and the most common form of short-limbed dwarfism. The clinical achondroplastic features are: short stature and limbs, enlarged head with prominent forehead, lordosis and a trident aspect of the hand. The intelligence is usually normal. Because of the complexity of the complications (apnea, motor retardation, hydrocephaly, respiratory disorders, spinal stenosis, spinal cord compression) a child with achondroplasia has to be periodically monitored by a multidisciplinary team, especially in the first years of life. Moreover, the role of the psychological counseling is essential for a child with achondroplasia and his family. Also, a better communication network among different specialists and the support associations is needed, in order to create a professional guidance and a normal environment for those who are living with achondroplasia.
Keywords:	achondroplasia, short stature, limb-lengthening, spinal stenosis, multidisciplinary team
References:	Simona Dumitra, “Vasile Goldis” Western University, Department of Paediatrics, e-mail: dumitrasimona@yahoo.com
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