Catalog
Rubinstein-Taybi syndrome
No MMS code
Link to WHO Definition
Rubinstein-Taybi syndrome – http://id.who.int/icd/entity/692585833
Rubinstein-Taybi syndrome is a developmental anomalies syndrome characterised by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), intellectual deficit and behavioural troubles.
Parents
- LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin
- Miscellaneous specified genetic syndromes affecting the skin
- Congenital Glaucoma associated with systemic disorders
- Inherited cancer-predisposing syndromes
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature