Topic: Macrocephaly mesodermal hamartoma spectrum
Question: What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ?
Answer: What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. 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 form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - 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)