Conditions / Genetic
chromosome 9p deletion syndrome
info · Genetic · ICD-10: Q93.5
A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor develop
A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.
Signs and symptoms
- Trigonocephaly
- Narrow mouth
- Hypertelorism
- Retrognathia
- Intellectual disability
- Heart murmur
- Global developmental delay
- Long toe
- Hallux varus
- Sandal gap
Also known as: 9p syndrome; Alfi syndrome; monosomy 9p syndrome