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Seckel syndrome 7

Summary

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. [from ORDO]

Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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