Spondyloepiphyseal dysplasia, Cantu type (Q88343): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Displasia espondiloepifisária, tipo Cantu é um tipo extremamente raro de displasia espondiloepifisária descrita em cerca de 5 pacientes até o momento e caracterizada por sinais clínicos incluindo baixa estatura, fácies peculiar com blefarofimose, olhos inclinados para cima, sobrancelhas e cílios abundantes, voz rouca e mãos e pés curtos (braquimetacarpia, braquimetatarsia e braquifalangia).
@@ description / en / description / en @@
+Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/897226700
@@ Property / Canonical URI: https://id.who.int/icd/entity/897226700 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_897226700
@@ Property / CURIE: CID11:ID_897226700 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_897226700
@@ Property / Canary Token: dki-india-ID_897226700 / 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 14:32, 15 August 2026

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).

Language	Label	Description	Also known as
default for all languages	ID_897226700
English	Spondyloepiphyseal dysplasia, Cantu type	Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterised by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).