Disease Profile

Deafness enamel hypoplasia nail defects

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

Childhood

ageofonset-childhood.svg

ICD-10

-

Inheritance

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

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other Names (AKA)

Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects; Heimler syndrome; Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

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

Orpha Number: 3220

Definition
Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.

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
Abnormal eyelid morphology
Abnormality of the eyelid
Abnormality of the eyelids

[ more ]

0000492
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal hair quantity
0011362
Abnormal nasolacrimal system morphology
0000614
Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]

0008388
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of nail color
Abnormality of nail colour
0100643
Diabetes mellitus
0000819
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
Hypogonadism
Decreased activity of gonads
0000135
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Pili torti
Flattened and twisted hair
0003777
Sensorineural hearing impairment
0000407
Taurodontia
0000679
Thin eyebrow
Thin eyebrows
0045074
30%-79% of people have these symptoms
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Large hands
large hand
0001176
Primary amenorrhea
0000786
Round face
Circular face
Round facial appearance
Round facial shape

[ more ]

0000311
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
High anterior hairline
High frontal hairline
0009890
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Ichthyosis
0008064
Macular dystrophy
0007754
Muscle flaccidity
0010547
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Percent of people who have these symptoms is not available through HPO
Amelogenesis imperfecta
0000705
Autosomal recessive inheritance
0000007
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Leukonychia
White discoloration of nails
0001820

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 Deafness enamel hypoplasia nail defects. Click on the link to view a sample search on this topic.