Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
Exact Synonyms
Majewski Syndrome
Polydactyly with Neonatal Chondrodystrophy Type II
Short Rib-Polydactyly Syndrome Type II
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
class Information
code
C122654
Contributing_Source
Cellosaurus
Preferred_Name
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
Related_To_Genetic_Biomarker
Semantic_Type
Disease or Syndrome
UMLS_CUI
C0024507