Acrofacial dysostosis, Catania type (Q86219): Difference between revisions
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A disostose acrofacial tipo Catania pertence ao grupo das disostoses acrofaciais, um grupo heterogêneo de transtornos que combina defeitos de membros e de desenvolvimento mandibular/facial, e se apresenta com fenótipo leve: retardo de crescimento intrauterino leve e baixa estatura pós-natal, microcefalia, déficit intelectual leve, pico de viúva, disostose mandibulofacial moderada (incluindo anomalias dentárias e/ou mau posicionamento, microrretrognatia e hipoplasia malar), mãos curtas com braquidactilia generalizada, vincos símios, membrana interdigital leve e clinodactilia. | |||
| description / en | description / en | ||
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. | |||
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. |
