Question: What are the symptoms of Blepharophimosis with ptosis, syndactyly, and short stature ?
Answer: What are the signs and symptoms of Blepharophimosis with ptosis, syndactyly, and short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis with ptosis, syndactyly, and short stature. 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 cranial nerves 90% Blepharophimosis 90% Highly arched eyebrow 90% Mandibular prognathia 90% Ptosis 90% Strabismus 90% Synophrys 90% Thick eyebrow 90% Short stature 50% Abnormality of the sense of smell 7.5% Cognitive impairment 7.5% Hypertelorism 7.5% Thick lower lip vermilion 7.5% Abnormality of the foot - Anosmia - Autosomal recessive inheritance - Cutaneous finger syndactyly - Esotropia - Frontalis muscle weakness - Intellectual disability, borderline - Weak extraocular muscles - Wide nasal bridge - 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