X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

This rare condition is known by the name X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability. People with this condition typically present with distinctive facial features, a shorter than average stature, an obstruction or narrowing at the back of the nasal passage (known as choanal atresia), and intellectual challenges. The condition is reported as being limited to females, which is highlighted by its name indicating an X-linked pattern. Because detailed clinical definitions and descriptions are not available in the current sources, understanding of the full spectrum of this condition remains limited. The available references, including records from Orphanet (Orphanet:480880) and GARD (GARD:13638), note these main features but do not provide more comprehensive information at this time.

The main features suggested by the condition’s name include distinctive facial dysmorphism, short stature, choanal atresia (a blockage or narrowing of the nasal passage), and intellectual disability. However, further details regarding the severity or range of these symptoms are limited in the available information.

The condition is described as X-linked, implying that the genetic change is linked to the X chromosome. Specific genetic mutations or inherited factors have not been detailed in the available sources, so the exact cause of the condition remains uncertain.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.