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Disease Profile

Nasodigitoacoustic syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

-

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Keipert Syndrome

Categories

Congenital and Genetic Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2662

Definition
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.

Visit the Orphanet disease page for more resources.

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 distal phalanges of the toes
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe

[ more ]

0010185
Broad distal phalanx of finger
Broad outermost finger bone
0009836
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe

[ more ]

0010059
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
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
Sensorineural hearing impairment
0000407
Short distal phalanx of finger
Short outermost finger bone
0009882
Short hallux
Short big toe
0010109
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Aplastic/hypoplastic toenail
Absent/small toenails
Absent/underdeveloped toenails

[ more ]

0010624
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Exaggerated cupid's bow
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip

[ more ]

0002263
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
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
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Ptosis
Drooping upper eyelid
0000508
Tented upper lip vermilion
0010804
5%-29% of people have these symptoms
Behavioral abnormality
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances

[ more ]

0000708
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Short stature
Decreased body height
Small stature

[ more ]

0004322
Percent of people who have these symptoms is not available through HPO
Abnormality of the nail
0001597
Autosomal dominant inheritance
0000006
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Enlarged epiphyses
Large end part of bone
0010580
Frontal bossing
0002007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Low hanging columella
0009765
Narrow palate
Narrow roof of mouth
0000189
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Rounded epiphyses
Rounded end part of bone
0006026
Short 3rd metacarpal
Shortened 3rd long bone of hand
0010041
Short phalanx of finger
Short finger bones
0009803
Short toe
Short toes
Stubby toes

[ more ]

0001831
Thick upper lip vermilion
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip

[ more ]

0000215

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 Nasodigitoacoustic syndrome. Click on the link to view a sample search on this topic.