SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719377004
http://purl.bioontology.org/ontology/SNOMEDCT/719377004
Preferred Name

Microcephalus with albinism and digital anomaly syndrome

Definitions
A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait.
Synonyms
Microcephalus with albinism and digital anomaly syndrome (disorder)
Microcephaly with albinism and digital anomaly syndrome
Castro Gago Pombo Novo syndrome
Type http://www.w3.org/2002/07/owl#Class
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