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Disease Profile
Nager acrofacial dysostosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q75.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies; Nager syndrome; AFD, Nager type;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family.[1][2] Treatment is tailored to the individual based upon their specific needs.[2] This condition is caused by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 | |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] |
0010669 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Skeletal dysplasia | 0002652 | ||
30%-79% of people have these symptoms | |||
Abnormal nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ] |
0005105 | |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 | |
Cleft roof of mouth
|
0000175 | ||
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | |
Lower eyelid coloboma |
Cleft lower eyelid
Notched lower eyelid
[ more ] |
0000652 | |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 | |
Drooping upper eyelid
|
0000508 | ||
Respiratory insufficiency |
Respiratory impairment
|
0002093 | |
Sparse lower eyelashes |
Scanty lower eyelashes
Thin lower eyelashes
[ more ] |
0007776 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 | |
5%-29% of people have these symptoms | |||
Abnormality of cardiovascular system morphology | 0030680 | ||
Abnormality of the lower limb |
Lower limb deformities
|
0002814 | |
Low-set, posteriorly rotated ears | 0000368 | ||
Non-midline |
0100335 | ||
Patent ductus arteriosus | 0001643 | ||
Phocomelia | 0009829 | ||
Triphalangeal thumb |
Finger-like thumb
|
0001199 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Percent of people who have these symptoms is not available through HPO | |||
Abnormality of the cervical spine |
Abnormal cervical spine
|
0003319 | |
Absent radius |
Missing outer large bone of forearm
|
0003974 | |
Absent thumb |
Absent thumbs
|
0009777 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 | |
Aqueductal stenosis | 0002410 | ||
0000006 | |||
Bicornuate uterus |
Heart shaped uterus
Heart-shaped uterus
[ more ] |
0000813 | |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 | |
Cleft upper lip |
Harelip
|
0000204 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Foot oligodactyly |
Missing toes
|
0001849 | |
Gastroschisis | 0001543 | ||
Hallux valgus |
Bunion
|
0001822 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 | |
Too much cerebrospinal fluid in the brain
|
0000238 | ||
Hypoplasia of first ribs |
Small first rib
Underdeveloped first rib
[ more ] |
0006657 | |
Hypoplasia of the epiglottis | 0005349 | ||
Laryngeal hypoplasia | 0008749 | ||
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 | |
Malar flattening |
Zygomatic flattening
|
0000272 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 | |
Overlapping toe |
Overlapping toes
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Treatment In infants with Nager acrofacial dysostosis who experience respiratory distress require immediate attention and may require a tracheostomy. A tracheostomy is a surgical procedure on the neck that opens a direct airway through an incision in the windpipe.
Infants with feeding difficulties may require surgery and/or placement of a feeding tube (gastrostomy). Surgery can be performed to repair Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Social Networking Websites
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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