Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic  Read More

Facial, limb, and genital deformities are common in faciogenital dysplasia, an extremely rare genetic disorder. In some cases, certain forms of cognitive impairments may also exist. Up till now, faciogenital dysplasia has only been linked to one gene, the FGD1 gene on the X chromosome. Treatment 1. Faciaogeny dysplasia treatment focuses on the distinctive symptoms that are present in each patient.  Read More

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal)  Read More

The genetic multisystem disorder trichorhinophalangeal syndrome type 1 (TRPS1) is incredibly rare. Thin, sparse hair on the scalp, peculiar facial characteristics, malformed fingers and/or toes, and numerous abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), particularly in the hands and feet, are all traits of TRPS1.A rounded (bulbous) "pear-shaped" nose, an excessively small jaw (m  Read More