RIPPLY2 gene related symptoms and diseases

Alternate names

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies, jarcho-levin syndrome, spondylothoracic dysplasia, spondylothoracic dysostosis, costovertebral dysplasia

Description

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

Most common symptoms of AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

• Intellectual disability
• Short stature
• Microcephaly
• Scoliosis
• Cleft palate

SOURCES: OMIM ORPHANET

Alternate names

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant, kfs

Description

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

Most common symptoms of KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

• Hearing impairment
• Scoliosis
• Sensorineural hearing impairment
• Cleft palate
• Macrocephaly

SOURCES: OMIM

Most common symptoms of SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6

• Scoliosis
• Kyphosis
• Hemivertebrae
• Spinal canal stenosis
• Thoracic scoliosis

SOURCES: OMIM