Question: What is (are) Brachydactyly type C ?
Answer: Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Source: GARD

Question: What are the symptoms of Brachydactyly type C ?
Answer: What are the signs and symptoms of Brachydactyly type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Cone-shaped epiphyses of the middle phalanges of the hand 90% Pseudoepiphyses of the 2nd finger 90% Pseudoepiphyses of the 3rd finger 90% Short 2nd finger 90% Short 3rd finger 90% Short middle phalanx of finger 90% Ulnar deviation of finger 90% Clinodactyly of the 5th finger 75% Enlarged epiphysis of the middle phalanx of the 2nd finger 75% Enlarged epiphysis of the middle phalanx of the 3rd finger 75% Enlarged epiphysis of the proximal phalanx of the 2nd finger 75% Enlarged epiphysis of the proximal phalanx of the 3rd finger 75% Short 1st metacarpal 75% Triangular epiphysis of the middle phalanx of the 2nd finger 75% Triangular epiphysis of the middle phalanx of the 3rd finger 75% Triangular epiphysis of the proximal phalanx of the 2nd finger 75% Triangular epiphysis of the proximal phalanx of the 3rd finger 75% Triangular shaped middle phalanx of the 2nd finger 75% Triangular shaped middle phalanx of the 3rd finger 75% Triangular shaped proximal phalanx of the 2nd finger 75% Triangular shaped proximal phalanx of the 3rd finger 75% Abnormality of the fingernails 50% Cone-shaped epiphysis 50% Short toe 50% Ulnar deviation of the 2nd finger 50% Ulnar deviation of the 3rd finger 50% Short stature 33% Delayed skeletal maturation 7.5% Symphalangism affecting the phalanges of the hand 7.5% Talipes 7.5% Talipes equinovalgus 7.5% Talipes equinovarus 7.5% Autosomal dominant inheritance - Hypersegmentation of proximal phalanx of second finger - Hypersegmentation of proximal phalanx of third finger - Madelung deformity - Polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD