Aase–Smith syndrome

Also known as: Aase syndrome

Congenital hypoplastic anemia with triphalangeal thumbs and heart defects.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: RPS19

Etiology & mechanism

Related to Diamond–Blackfan anemia spectrum.

Gene(s) involved (1)

RPS19

Symptoms & signs (6)

hypoplastic anemialate closure of fontanelnarrow shoulderspallortriphalangeal thumbventricular septal defect

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.