Mulibrey Nanism syndrome

Overview

A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.

Symptoms

* Fetal growth retardation * Low birth weight * Short stature * Large hands * Large feet * Long head * J-shaped sella turcia * Triangular face * Frontal bossing * Small tongue * Decreased retinal pigmentation * Crowded teeth * Missing frontal sinuses * Missing sphenoidal sinuses * Absent frontal sinuses * Absent sphenoidal sinuses * Thick adherent pericardium * Enlarged liver * Prominent neck veins * Fibrous dysplasia * Muscle reduced muscle tone * High pitched voice * Hypodontia of second bicuspid * Growth retardation

Diagnosis

* Liver Health: Home Testing o Home Hepatitis Tests o Home Liver Tests