Global InformationMicrocephaly albinism digital anomalies syndrome information
| Microcephaly albinism digital anomalies syndrome | |
|---|---|
 | |
| X-ray of a patient with microcephaly albinisim digital anomalies syndrome.[1] |
Microcephaly albinism digital anomalies syndrome is a very rare congenital genetic disease. The syndrome includes microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers, and agenesia of the distal end of the right big toe.[2]
- ^ Dias, Patrícia; Medeira, Ana; Cordeiro, Isabel (October 2012). "A new intellectual disability syndrome with digital anomalies". Clinical Dysmorphology. 21 (4): 222–225. doi:10.1097/MCD.0b013e32835701b9. PMID 22797554.
- ^ "Microcephaly-albinism-digital anomalies syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020-05-30.