Topic: Mandibulofacial dysostosis with microcephaly
Question: What are the symptoms of Mandibulofacial dysostosis with microcephaly ?
Answer: What are the signs and symptoms of Mandibulofacial dysostosis with microcephaly? Mandibulofacial dysostosis with microcephaly (MFDM) may affect multiple parts of the body but primarily affects the head and face. People with MFDM are usually born with a small head (microcephaly) which does not grow at the same rate as the body. Intellectual disability ranges from mild to severe and is present in almost all affected people. Speech and language problems are also common. Facial abnormalities in affected people may include underdevelopment (hypoplasia) of the midface and cheekbones; a small lower jaw (micrognathia); small and malformed ears; facial asymmetry; and cleft palate. Other head and facial features may include a metopic ridge; up- or downslanting palpebral fissures; a prominent glabella (space between the eyebrows); a broad nasal bridge; a bulbous nasal tip; and an everted lower lip. Abnormalities of the ear canal, ear bones, or inner ear often lead to hearing loss. Affected people can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems. Other signs and symptoms in some people with MFDM may include esophageal atresia, congenital heart defects, thumb anomalies, and/or short stature. The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibulofacial dysostosis with microcephaly. 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 antihelix 90% Abnormality of the tragus 90% Cleft palate 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Microcephaly 90% Neurological speech impairment 90% Preauricular skin tag 90% Short nose 90% Short stature 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Atresia of the external auditory canal 50% Epicanthus 50% Large earlobe 50% Overfolded helix 50% Preaxial hand polydactyly 50% Telecanthus 50% Trismus 50% Atria septal defect 7.5% Proximal placement of thumb 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Ventricular septal defect 7.5% Esophageal atresia 5% Anteverted nares - Autosomal dominant inheritance - Autosomal recessive inheritance - Choanal atresia - Conductive hearing impairment - Deep philtrum - Delayed speech and language development - Feeding difficulties in infancy - Hypoplasia of midface - Low-set ears - Mandibulofacial dysostosis - Microtia - Respiratory difficulties - Slender finger - 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)