Question: What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ?
Answer: What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. 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 clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - 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