Preferred Label : Acrofacial dysostosis, Catania type;
ICD-11 definition : Acrofacial dysostosis, Catania type belongs to the group of acrofacial dysostoses,
a heterogenous group of disorders combining defects of limb and mandibular/facial
development, and prensents with a with mild phenotype: mild intrauterine growth retardation
and postnatal short stature, microcephaly, mild intellectual deficit, widow's peak,
moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning,
microretrognathia, and malar hypoplasia), short hands with generalized brachydactyly,
simian creases, mild interdigital webbing and clinodactyly.;
Origin ID : 750680130;
Automatic exact mappings (from CISMeF team)
Acrofacial dysostosis, Catania type belongs to the group of acrofacial dysostoses,
a heterogenous group of disorders combining defects of limb and mandibular/facial
development, and prensents with a with mild phenotype: mild intrauterine growth retardation
and postnatal short stature, microcephaly, mild intellectual deficit, widow's peak,
moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning,
microretrognathia, and malar hypoplasia), short hands with generalized brachydactyly,
simian creases, mild interdigital webbing and clinodactyly.
