Topic: Lenz Majewski hyperostotic dwarfism
Question: What are the symptoms of Lenz Majewski hyperostotic dwarfism ?
Answer: What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. 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 cortical bone morphology 90% Abnormality of dental enamel 90% Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Broad forehead 90% Choanal atresia 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Cutis laxa 90% Delayed skeletal maturation 90% Finger syndactyly 90% Hypertelorism 90% Increased bone mineral density 90% Joint hypermobility 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Prematurely aged appearance 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the metacarpal bones 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hernia of the abdominal wall 50% Humeroradial synostosis 50% Lacrimation abnormality 50% Thick lower lip vermilion 50% Wide mouth 50% Abnormality of the fingernails 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Facial palsy 7.5% Hydrocephalus 7.5% Kyphosis 7.5% Limitation of joint mobility 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Microcephaly 5% Abnormality of the teeth - Agenesis of corpus callosum - Anteriorly placed anus - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Broad clavicles - Broad ribs - Choanal stenosis - Chordee - Cutis marmorata - Delayed cranial suture closure - Diaphyseal thickening - Elbow flexion contracture - Failure to thrive - Flared metaphysis - Frontal bossing - Hyperextensibility of the finger joints - Hypospadias - Inguinal hernia - Intellectual disability - Intellectual disability, moderate - Intrauterine growth retardation - Knee flexion contracture - Lacrimal duct stenosis - Large fontanelles - Microglossia - Progressive sclerosis of skull base - Prominent forehead - Prominent scalp veins - Proximal symphalangism (hands) - Relative macrocephaly - Sensorineural hearing impairment - Sparse hair - Sporadic - Syndactyly - Thin skin - 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)