3p deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecan

A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia.

Signs and symptoms

• Gastroesophageal reflux
• Overlapping toe
• Postnatal growth retardation
• Intellectual disability
• Global developmental delay
• Blepharophimosis
• Bulbous nose
• Thin upper lip vermilion
• Overfolded helix
• Wide nasal bridge

Also known as: chromosome 3pter-P25 deletion syndrome; distal monosomy 3p