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Disease Profile
Neurofaciodigitorenal syndrome
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.
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Age of onset
Neonatal
ICD-10
Q87.8
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)
NFDR syndrome; Freire-Maia Pinheiro Opitz syndrome
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Orpha Number: 2673
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 | ||
Abnormal oral mucosa morphology |
Abnormality of lining of mouth
|
0011830 |
Abnormality of the antitragus | 0009896 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the tragus | 0009912 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Brachycephaly |
Short and broad skull
|
0000248 |
External ear malformation | 0008572 | |
Hypoplasia of the premaxilla |
Hypoplasia of the primary palate bone
Premaxillary bone deficiency
Primary palate bone deficiency
Small premaxilla
Small primary palate bone
Underdevelopment of the premaxilla
Underdevelopment of the primary palate bone
[ more ] |
0010650 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Muscular |
Low or weak muscle tone
|
0001252 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
30%-79% of people have these symptoms | ||
Abnormal distal phalanx morphology of finger |
Abnormality of the outermost finger bone
|
0009832 |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of the philtrum | 0000288 | |
Corneal dystrophy | 0001131 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Pectus excavatum |
Funnel chest
|
0000767 |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] |
0001357 |
Drooping upper eyelid
|
0000508 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
0000007 | ||
Bifid nose |
Indentation or clefting of the nose
|
0011803 |
0002353 | ||
Frontal bossing | 0002007 | |
Midline defect of the nose | 0004122 |
Learn more
These 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.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neurofaciodigitorenal syndrome. Click on the link to view a sample search on this topic.