Acrofacial dysostosis, Catania type (Q86219): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/750680130
@@ Property / Canonical URI: https://id.who.int/icd/entity/750680130 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_750680130
@@ Property / CURIE: CID11:ID_750680130 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_750680130
@@ Property / Canary Token: dki-india-ID_750680130 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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.