Rare Hematology News

Disease Profile

Focal dermal hypoplasia

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

Neonatal

ICD-10

Q82.8

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)

DHOF; FODH; FDH;

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases;

Summary

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited.[1] Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons.[2]

Symptoms

Focal dermal hypoplasia is usually evident from birth and primarily affects the skin, skeleton, eyes, and face. The signs and symptoms of vary widely, although almost all affected individuals have skin abnormalities.[1]

Some of the skin findings include streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), telangiectases, and streaks of slightly darker or lighter skin. These skin features can cause pain, itching, irritation, or lead to skin infections. With age, most develop wart-like growths, called papillomas, around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Other features include small, ridged fingernails and toenails as well as sparse, brittle or absent scalp hair.[1]

The skeleton is usually affected as well. Many individuals have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, which usually do not cause symptoms.[1] 

Eye abnormalities are common and can include microphthalmia and anopthalmia as well as problems with the tear ducts. The retina or the optic nerve can also be incompletely developed, which can result in a gap or split in these structures (coloboma). Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.[1]

People with focal dermal hypoplasia often have distinctive, but subtle facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Some individuals may have a cleft lip and/or palate.[1]

About half of those with focal dermal hypoplasia have teeth abnormalities of their teeth, especially of the enamel (the hard, white material that forms the protective outer layer of each tooth). Less commonly, kidney and gastrointestinal abnormalities are present. The kidneys may be fused together, which can lead to kidney infections. The main gastrointestinal abnormality that is seen is an omphalocele.[1]

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 palmar dermatoglyphics
0001018
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Abnormality of the middle ear
0000370
Abnormality of the nail
0001597
Camptodactyly of finger
Permanent flexion of the finger
0100490
Coarse metaphyseal trabecularization
0100670
Dermal atrophy
Skin degeneration
0004334
Finger syndactyly
0006101
Hand polydactyly
Extra finger
0001161
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Lower limb asymmetry
Left and right leg differ in length or width
0100559
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macule
Flat, discolored area of skin
0012733
Papilloma
0012740
Reduced number of teeth
Decreased tooth count
0009804
Split foot
Lobster-claw foot deformity
Split-foot

[ more ]

0001839
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand

[ more ]

0001171
Telangiectasia of the skin
0100585
Thin skin
0000963
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Upper limb asymmetry
Unequal size of arms
0100560
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Corneal opacity
0007957
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Ectopia lentis
0001083
Erythema
0010783
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Horseshoe kidney
Horseshoe kidneys
0000085
Hypoplasia of the iris
Underdeveloped iris
0007676
Hypoplastic pelvis
0008839
Iris coloboma
Cat eye
0000612
Microphthalmia
Abnormally small eyeball
0000568
Multicystic kidney dysplasia
0000003
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth

[ more ]

0010807
Scoliosis
0002650
Short clavicles
Short collarbone
0000894
Short ribs
0000773
Spina bifida
0002414
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal adipose tissue morphology
Abnormality of adipose tissue
Abnormality of fat tissue
Abnormality of fatty tissue

[ more ]

0009124
Abnormality of the mediastinum
0045026
Abnormality of the pulmonary vasculature
Abnormality of the lung blood vessels
0004930
Acute hepatic failure
Acute liver failure
0006554
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Congenital diaphragmatic hernia
0000776

Diagnosis

Making 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

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support 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

      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.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • Genetics Home Reference (GHR) contains information on Focal dermal hypoplasia. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 Focal dermal hypoplasia. Click on the link to view a sample search on this topic.

          References

          1. Focal dermal hypoplasia. Genetics Home Reference. July 2014; https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia.
          2. Sutton, V Reid and Van den Veyver, Ignatia. Focal Dermal Hypoplasia. GeneReviews. April, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1543/. Accessed 1/29/2016.
          3. Focal Dermal Hypoplasia. Genetics Home Reference. July, 2014; https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia. Accessed 1/29/2016.

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