Dysostosis acral with facial and genital abnormalities
Overview
Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
Symptoms
The list of signs and symptoms mentioned in various sources for Dysostosis acral with facial and genital abnormalities includes the 42 symptoms listed below: * Fetal face * Wide set eyes * Prominent eyes * Broad nose root * Broad forehead * Mouth abnormalities * Dental abnormalities * Short limbs * Short stature * Small hands * Broad thumbs * Kyphoscoliosis * Underdeveloped genitals * Large head * Bulging forehead * Wide set eyes * Small nose * Upturned nose * Sunken nose bridge * Flared nostrils * Short forearm bones * Short fingers * Short toes * Permanently bent fifth finger * Broad thumb * Malformed ribs * Hemivertebrae * Small penis * Undescended testes * Underdeveloped clitoris * Elongated labia majora * Misaligned teeth * Underdeveloped midface * Communicating hydrocephalus * Underdeveloped sinuses * Underdeveloped nipples * Missing middle bones of some toes * Single creases on some fingers * Abnormal umbilicus * Shawl scrotum * Umbilical hernia * Supernumerary teeth
Diagnosis
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