Bowen-Conradi syndrome, a highly uncommon hereditary condition, is marked by abnormalities of the head and face, developmental delays before birth, and infantile failure to thrive. Small head, prominent nose, small chin, minor joint limitation, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in afflicted males are some other physical anomalies. Kidney, brain, and/or other problems may  Read More

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild intellectual disability.  Read More

Prader-Willi Syndrome is a result of the deletion of a portion of chromosome number 15, or genes on it are missing altogether. It is solely inherited from the father. It shows in physical characteristics such as behavioral problems, intellectual disabilities, sleep disorders, speech issues and, shortened stature and hormonal signs like late puberty, and constant sensation of hunger that eventually grows into obesity. Abnormal  Read More

Rubinstein-Taybi Syndrome is a genetic disorder characterized by shortened stature, mild to severe intellectual disabilities, peculiar facial features, broader thumbs and first toes, abnormalities of the eyes, kidney and heart complications, dental issues, and obesity. The life expectancy of affected children does not exceed 5 years of age. Mutations of certain genes in the DNA are the primary cause, making it a ge  Read More

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