Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature. Types
There are two types of OFC:

Otofaciocervical syndrome type 1
It is characterized by facial dysmorphisms, low-set cup-shaped ears, preauricular sinus or cyst, hearing loss, branchial and skeletal anomalies, low-set clavicle bones, winged scapulae, sloping shoulders and mild intellectual disabilities. It is caused by autosomal dominant mutations in the EYA1 gene in chromosome 8. Only 11 cases have been reported in medical literature. Otofaciocervical syndrome type 2
It is characterized by the same symptoms in type 1, this disorder is different from type 1 because of its genetic cause and because of its additional features: thymus development alterations with T-cell immunodeficiency and recurrent infections which may turn fatal. It is caused by autosomal recessive mutations in the PAX1 gene in chromosome 20. Only 13 cases have been described in medical literature. == References ==
Ullrich congenital muscular dystrophy is a form of congenital muscular dystrophy. It is associated with variants of type VI collagen, it is commonly associated with muscle weakness and respiratory problems, though cardiac issues are not associated with this type of CMD. It is named after Otto Ullrich, who is also known for the Ullrich-Turner syndrome. Signs and symptoms
The presentation of Ullrich congenital muscular dystrophy in an affected individual is as follows:
Muscle weakness
Difficulty walking
Contractures (predominantly in proximal muscles, e.g. neck)
Joint looseness (predominantly in distal joints)

Genetics
In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature.COL6A1 plays an important part in maintaining the human bodys integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein. Diagnosis
In terms of the diagnosis of Ullrich congenital muscular dystrophy upon inspection follicular hyperkeratosis, may be a dermatological indicator, additionally also serum creatine kinase may be mildly above normal. Other exams/methods to ascertain if the individual has Ullrich congenital muscular dystrophy are:
MRI
Biopsy muscle
Genetic testing

Differential diagnosis
This includes

Treatment
Treatment for Ullrich congenital muscular dystrophy can consist of physical therapy and regular stretching to prevent and reduce contractures. Respiratory support may be needed at some point by the affected individual.Though cardiac complications are not a concern in this type of CMD, in regards to respiratory issues ventilation via a tracheostomy is a possibility in some cases.