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GTR Home > Conditions/Phenotypes > Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Synonyms
SADDAN dysplasia; SSB syndrome; Severe achondroplasia with developmental delay and acanthosis nigricans; Skeleton skin brain syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACH, CD333, CEK2, HSFGFR3EX, JTK4, FGFR3
    Summary: fibroblast growth factor receptor 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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