Rare Diseases Symptoms Automatic Extraction

A case of monosomy 21.

[monosomy 21]

A new case of monosomy 21 was observed in a newborn male. Characteristic clinical features include: an antimongoloid eye slants, large and low set ears, flat nose bridge, hypoplastic nipples, cardiac anomalies, muscular hypotonia, retarded psychomotor development. The karyotypes of the parents were normal.

Diseases presenting "hypoplastic nipples" symptom

  • monosomy 21

This symptom has already been validated