Congenital hypoplastic anemia with triphalangeal thumbs and heart defects.
- Specialty
- Hematology
- Subspecialty
- Hematology / Bone marrow failure
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- RPS19
- Alternative names & eponyms
- Aase syndrome
Etiology & mechanism
Related to Diamond–Blackfan anemia spectrum.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Aase–Smith syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Adams–Stokes syndrome
pallor
1 shared
Anomalous left coronary artery from pulmonary artery
pallor
1 shared
Compartment syndrome
pallor
1 shared
Cyclic vomiting syndrome
pallor
1 shared
Diamond–Blackfan anemia
pallor
1 shared
Donath–Landsteiner syndrome
pallor
1 shared
Evans syndrome
pallor
1 shared
Food protein-induced enterocolitis syndrome
pallor
1 shared
Hemolytic uremic syndrome
pallor
1 shared
Holt–Oram syndrome
ventricular septal defect
Shares genes with
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