IllnessHypochondroplasia

NGS +

Sanger

Hypochondroplasia is a skeletal disorder with short stature and disproportionately short arms and legs, including broad, short hands and feet as well as macrocephaly. Imaging shows shortened long bones with mild metaphyseal lightening, narrowing of the inferior lumbar interpedicular distances. These skeletal features resemble achondroplasia but are milder; intellectual deficits and epilepsy are more common. Usually, decreased growth velocity is noticed in infancy or early school age. The mode of inheritance is autosomal dominant with full penetrance, given that also radiographic sign are considered. The DNA diagnostic yield varies between 70-90%, and the remainder of the genetic causes currently remain largely unknown. Therefore, a negative DNA sequencing result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1477/

[Additional phenotypes caused by mutations in the FGFR3 gene: Achondroplasia; Bladder cancer, somatic; CATSHL syndrome; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans; LADD and Muenke syndromes; Nevus, epidermal, somatic; SADDAN; Spermatocytic seminoma, somatic; Thanatophoric dysplasia, type I/II]

• Allelic: Achondroplasia (FGFR3)
• Allelic: Bladder cancer, somatic; Cervical cancer, somatic; Colorectal cancer, somatic (FGFR3)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cervical cancer, somatic (FGFR3)
• Allelic: Colorectal cancer, somatic (FGFR3)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Naevus, epidermal, somatic (FGFR3)
• Allelic: SADDAN (FGFR3)
• Allelic: Spermatocytic seminoma, somatic (FGFR3)
• Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
• Hypochondroplasia (FGFR3)