Table 1.

Clinical characteristics of ribosomopathies.

DISEASE	GENE DEFECT	CLINICAL FEATURES	TREATMENT	REFERENCES
Diamond-Blackfan anemia (DBA)	10–15 ribosomal proteins (esp. S19, S26, L5, L11)	Anemia Growth retardation Congenital (esp. craniofacial and thumb) abnormalities	Corticosteroids Blood transfusions Hematopoietic stem cell transplantation (HSCT) Leucine (?)	62,100,184
5q-syndrome	RPS14	Anemia	Lenalidomide	104,115
Schwachman-Diamond syndrome (SDS)	SBDS	Exocrine pancreatic insufficiency Hematologic abnormalities (esp. neutropenia) Neurocognitive impairment Gl (esp. liver) abnormalities	Pancreatic enzyme supplementation HSCT	121,122
X-linked dyskeratosis congenita (DC)	DKC1	Mucocutaneous abnormalities (e.g. skin pigmentation and nail changes) Pulmonary fibrosis Bone marrow failure	Oxymetholone HSCT	135
Cartilage-hair hypoplasia (CHH)	RMRP	Short stature Bone deformities Hair growth abnormalities	Symptomatic	149
Treacher-Collins syndrome (TCS)	TCOF1	Craniofacial abnormalities	Symptomatic	156
Bowen-Conradi syndrome	EMG1	Severe growth retardation	None	162–164
North American Indian childhood cirrhosis	hUTP4/Cirhin	Biliary cirrhosis Portal hypertension	Liver transplantation	166–168