chromosome 1p36 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed c

A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.

Signs and symptoms

• Midface retrusion
• Long philtrum
• Horizontal eyebrow
• Global developmental delay
• Wide nasal bridge
• Neonatal hypotonia
• Deeply set eye
• Pointed chin
• Hypotonia
• Short 5th finger

Also known as: 1p36 deletion syndrome; deletion 1p36; monosomy 1p36