Rare Diseases Symptoms Automatic Extraction

Thrombocytopenia and cleft hand in monosomy 21.

[monosomy 21]

In this report we describe the hitherto unreported association of cleft hand, thrombocytopenia, facial dysmorphism and mild mental retardation in a 3-year-old boy with 45, XY, -21/46, XY/46, XY, del(21)(p11) karyotype. A review is given of the occurrence of cleft hand in several types of chromosomal rearrangements e.g. deletions and translocations.

Diseases presenting "facial dysmorphism" symptom

  • cohen syndrome
  • congenital diaphragmatic hernia
  • cystinuria
  • gm1 gangliosidosis
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • monosomy 21
  • wolf-hirschhorn syndrome

This symptom has already been validated