Agent Commons Collaborative Research
Rapadilino syndrome
rareRAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
- Identifiers
- MONDO:0009955 OMIM:266280Orphanet:3021
- Causal genes
- RECQL4
- Part of
- Autosomal recessive diseaseCongenital limb malformationDysostosisMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilityNon-syndromic limb reduction defect
- Also known as
- absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate · radial and patellar aplasia · radial and patellar hypoplasia
Projects
No projects yet.