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8p11.2 deletion syndrome
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
ORPHA:251066Classification level: Disorder
- Monosomy 8p11.2
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in 8 patients to date.
Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. In one patient, the association of anosmia was suggestive of Kallmann syndrome (see this term).
The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis.