Medical diagnosis is required. Clinical tests can be performed, as well as molecular genetic testing. The available tests include: Sequence analysis of the entire coding region *<unk>  (SADDAN) - Sanger Sequencing: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening * Craniosynostosis: Diagnosis * Invitae FGFR3-Related Disorders Test: Pre-symptomatic, Diagnosis, Therapeutic management Mutation scanning of select exons * Skeletal Dysplasia Panel: Diagnosis, Prognostic Sequence analysis of select exons *<unk>  (SADDAN, FGFR3): Diagnosis, Mutation Confirmation, Risk Assessment *<unk><unk> ,<unk><unk> ,<unk><unk> : Diagnosis, Mutation Confirmation Deletion/duplication analysis * Invitae FGFR3-Related Disorders Test: Pre-symptomatic, Diagnosis, Therapeutic management
Severe achondroplasia with developmental delay and acanthosis nigricans
Hand and foot deformity with flat facies
Hypertension and brachydactyly syndrome
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Microphthalmia–dermal aplasia–sclerocornea syndrome
Abdominal musculature absent with microphthalmia and joint laxity
Terminal osseous dysplasia with pigmentary defects
Vesiculopustular eruption and leukemoid reaction in Down syndrome