Topic: Gracile bone dysplasia
Question: What are the symptoms of Gracile bone dysplasia ?
Answer: What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. 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 bone mineral density 90% Abnormality of the spleen 90% Bowing of the long bones 90% Decreased skull ossification 90% Micromelia 90% Narrow mouth 90% Recurrent fractures 90% Short philtrum 90% Short stature 90% Skeletal dysplasia 90% Slender long bone 90% Tented upper lip vermilion 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the fingernails 50% Abnormality of the helix 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Abnormality of the ribs 50% Anteverted nares 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the thymus 50% Brachydactyly syndrome 50% Cloverleaf skull 50% Depressed nasal bridge 50% Enlarged thorax 50% Frontal bossing 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Platyspondyly 50% Renal hypoplasia/aplasia 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short nose 50% Short toe 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of neuronal migration 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia involving the nose 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Blepharophimosis 7.5% Blue sclerae 7.5% Cataract 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hepatomegaly 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Iris coloboma 7.5% Microcornea 7.5% Muscular hypotonia 7.5% Oligohydramnios 7.5% Rocker bottom foot 7.5% Upslanted palpebral fissure 7.5% Asplenia 5% Aniridia - Ascites - Autosomal dominant inheritance - Failure to thrive - Flared metaphysis - Hydrocephalus - Hypocalcemia - Hypoplastic spleen - Micropenis - Microphthalmia - Prominent forehead - Seizures - 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)