Acrofacial dysostosis, Catania type (Q86219): Difference between revisions
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Revision as of 11:35, 15 August 2026
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 presents 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 generalised brachydactyly, simian creases, mild interdigital webbing and clinodactyly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_750680130 |
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| English | Acrofacial dysostosis, Catania type |
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 presents 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 generalised brachydactyly, simian creases, mild interdigital webbing and clinodactyly. |
