IllnessKlippel-Feil syndrome, differential diagnosis

NGS +

Klippel-Feil syndrome is defined as a congenital fusion of two or more cervical vertebrae. The term Klippel-Feil anomaly is commonly used to describe a number of different phenotypes with the symptoms of short neck, low hairline at the back of the head and limited mobility in the neck. People with Klippel-Feil syndrome may have a variety of other characteristics in addition to vertebral fusion: Eye abnormalities, hearing problems, cleft palate, urogenital problems or other skeletal defects. Klippel-Feil anomaly sometimes occurs sporadically, in families inheritance is autosomal dominant or autosomal recessive (with unknown penetrance). The diagnostic yield is not known. An inconspicuous genetic finding does not mean a reliable exclusion of the suspected clinical diagnosis.

(Basic diagnostic genes: ###)

Reference: https://rarediseases.org/rare-diseases/klippel-feil-syndrome/

• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Microphthalmia with coloboma 6 (GDF3)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Microphthalmia, isolated 7 (GDF3)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Spondylocostal dysostosis 6 (RIPPLY2)
• Klippel-Feil syndrome 1, AD (GDF6)
• Klippel-Feil syndrome 2, AR (MEOX1)
• Klippel-Feil syndrome 3, AD (GDF3)
• Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)