Question: What are the symptoms of Popliteal pterygium syndrome lethal type ?
Answer: What are the signs and symptoms of Popliteal pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome lethal type. 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) Abnormal hair quantity 90% Abnormality of the eyelashes 90% Abnormality of the genital system 90% Abnormality of the palpebral fissures 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplasia/Hypoplasia of the eyebrow 90% Finger syndactyly 90% Hypoplastic toenails 90% Median cleft lip 90% Microcephaly 90% Popliteal pterygium 90% Synostosis of joints 90% Talipes 90% Toe syndactyly 90% Trismus 90% Aplasia/Hypoplasia of the thumb 50% Cleft eyelid 50% Cognitive impairment 50% Narrow mouth 50% Opacification of the corneal stroma 50% Short nose 50% Underdeveloped nasal alae 50% Renal hypoplasia/aplasia 7.5% Alopecia totalis 5% Bilateral cryptorchidism 5% Cupped ear 5% Hypertelorism 5% Hypoplasia of the maxilla 5% Hypoplastic male external genitalia 5% Hypoplastic scapulae 5% Microphthalmia 5% Wide intermamillary distance 5% Absent eyebrow - Absent eyelashes - Absent thumb - Anal stenosis - Ankyloblepharon - Anonychia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Facial cleft - Hypoplastic labia majora - Intrauterine growth retardation - Low-set ears - Short phalanx of finger - Small nail - Syndactyly - 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