Question: What is (are) Popliteal pterygium syndrome ?
Answer: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
Source: GARD

Question: What are the symptoms of Popliteal pterygium syndrome ?
Answer: What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome. 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) Cleft palate 90% Hypertrichosis 90% Limitation of joint mobility 90% Thin vermilion border 90% Toe syndactyly 90% Abnormality of female external genitalia 50% Abnormality of the palpebral fissures 50% Abnormality of the ribs 50% Abnormality of the toenails 50% Bifid scrotum 50% Cryptorchidism 50% Finger syndactyly 50% Lip pit 50% Non-midline cleft lip 50% Popliteal pterygium 50% Scoliosis 50% Scrotal hypoplasia 50% Talipes 50% Choanal atresia 7.5% Cognitive impairment 7.5% Split hand 7.5% Ankyloblepharon - Autosomal dominant inheritance - Cleft upper lip - Cutaneous finger syndactyly - Dementia - Fibrous syngnathia - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Intercrural pterygium - Lower lip pit - Pyramidal skinfold extending from the base to the top of the nails - Spina bifida occulta - Talipes equinovarus - 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