Ciliopathy

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Ciliopathy ( Sub Categories )

Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé Syndrome (BHD) is a rare genetic disorder caused by mutations in the FLCN gene, characterized by benign skin tumors, lung cysts that increase the risk of pneumothorax (lung collapse), and a higher risk of kidney tumors.

Carpenter syndrome

Carpenter syndrome is a rare genetic disorder characterized by skull abnormalities (craniosynostosis), extra fingers or toes (polydactyly), and congenital defects in the heart and other organs. It is caused by mutations in the RAB23 or MEGF8 genes and affects growth and development.

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Complex lethal osteochondrodysplasia

Complex osteochondrodysplasia is a rare genetic disorder affecting bone and cartilage development, leading to short stature, skeletal deformities, and joint problems. It may result from genetic mutations that impact bone and cartilage formation.

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Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome is a rare genetic disorder characterized by skull abnormalities (craniosynostosis), extra fingers or toes (polydactyly), and other congenital defects affecting the eyes, heart, and nervous system. It is caused by mutations in the GLI3 gene.

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Greig cephalopolysyndactyly-contiguous gene syndrome

Greig cephalopolysyndactyly syndrome with contiguous gene deletion is a rare condition caused by a large deletion in the genetic region including the GLI3 gene and adjacent genes. This leads to more severe symptoms than the classic syndrome, such as developmental delays, neurological disorders, and additional congenital anomalies.

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Hydrolethalus

Hydrothalamus is a rare brain development disorder characterized by the absence or underdevelopment of the thalamus, which can lead to developmental delays, seizures, and other neurological impairments. It may be associated with genetic conditions or other brain malformations.

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NEK9 NEK9-related lethal skeletal dysplasia

Lethal osteochondrodysplasia associated with the NEK9 gene is a rare genetic disorder characterized by severe skeletal abnormalities, including shortened limbs, spinal defects, and significant bone growth delays, which may be incompatible with life. This condition is caused by mutations in the NEK9 gene, which plays a crucial role in cell division and skeletal development.

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Oculoskeletodental syndrome

Ocular, skeletal, and dental (OST) syndrome is a rare genetic disorder characterized by abnormalities in the eyes, skeleton, and teeth. Symptoms may include microphthalmia (small eyes), spinal and limb deformities, and dental development defects. This syndrome is caused by genetic mutations affecting the development of various tissues in the body

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Oral-facial-digital syndrome with short stature and brachymesophalangy

Oral-facial-digital syndrome with short stature and short middle phalanges is a rare genetic disorder characterized by abnormal facial features, oral defects such as cleft lip or palate, finger anomalies (such as shortened or fused middle phalanges), and short stature. This condition may result from genetic mutations affecting bone and tissue development.

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