Lethal faciocardiomelic dysplasia is a rare genetic disorder that affects the development of the face, heart, and limbs. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms of this disorder include facial abnormalities, heart defects, and skeletal malformations. Affected individuals typically die in infancy due to respiratory failure or heart failure. There is no cure for this disorder.

The symptoms of Lethal faciocardiomelic dysplasia include:

-Severely shortened limbs
-Abnormal facial features
-Heart defects
-Abnormalities of the ribs and spine
-Abnormalities of the kidneys and urinary tract
-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Respiratory problems
-Hearing loss
-Vision problems
-Gastrointestinal problems
-Skin abnormalities

Lethal faciocardiomelic dysplasia is a rare genetic disorder caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is found in connective tissue throughout the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, and blood vessels. Mutations in the FBN1 gene lead to the production of an abnormal form of fibrillin-1, which disrupts the structure and function of connective tissue. This disruption leads to the signs and symptoms of lethal faciocardiomelic dysplasia.

1. Autosomal recessive inheritance
2. Mutations in the FBN1 gene
3. Maternal consanguinity
4. Advanced maternal age
5. Family history of the disorder

Unfortunately, there is no cure for lethal faciocardiomelic dysplasia. Treatment focuses on managing the symptoms and complications of the condition. Medications may be prescribed to help manage symptoms such as arrhythmias, seizures, and respiratory problems. Physical therapy and occupational therapy may also be recommended to help improve mobility and strength.