National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Focal dermal hypoplasia


Other Names:
DHOF; FODH; FDH; DHOF; FODH; FDH; Goltz Syndrome; Goltz Gorlin Syndrome; Goltz-Gorlin syndrome See More
Categories:
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]

Last updated: 2/5/2016
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]
Last updated: 2/5/2016

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.

Showing of 125 |
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
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
Rough bone trabeculation 0100670
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
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Giant cell tumor of bone 0011847
Hydronephrosis 0000126
Inguinal hernia 0000023
Narrow nasal bridge
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] 		0000446
Omphalocele 0001539
Patent ductus arteriosus 0001643
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ] 		0000307
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Umbilical hernia 0001537
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 hair texture 0010719
Abnormality of the larynx 0001600
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Absent fingernail 0001817
Absent toenail 0001802
Agenesis of corpus callosum 0001274
Aniridia
Absent iris
0000526
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] 		0000528
Anteriorly placed anus 0001545
Arnold-Chiari malformation 0002308
Bifid ureter 0030037
Brachydactyly
Short fingers or toes
0001156
Brittle hair 0002299
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Cleft ala nasi
Cleft nostril
0003191
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Clitoral hypoplasia
Small clitoris
Underdeveloped clit
[ more ] 		0000060
Congenital hip dislocation
Dislocated hip since birth
0001374
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Foot oligodactyly
Missing toes
0001849
Foot polydactyly
Duplication of bones of the toes
0001829
Hand oligodactyly
Hand has less than 5 fingers
0001180
Hiatus hernia
Stomach hernia
0002036
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypodontia
Failure of development of between one and six teeth
0000668
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypoplastic nipples
Small nipples
0002557
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Intestinal malrotation 0002566
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Labial hypoplasia
Underdeveloped labia
0000066
Linear hyperpigmentation 0007546
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Midclavicular aplasia
Missing middle part of collarbone
0006638
Midclavicular hypoplasia
Underdeveloped middle portion of the collarbone
0006608
Mixed hearing impairment
Hearing loss, mixed
Mixed hearing loss
[ more ] 		0000410
Myelomeningocele 0002475
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Oligodontia
Failure of development of more than six teeth
0000677
Optic atrophy 0000648
Osteopathia striata 0010740
Patchy alopecia
Patchy baldness
0002232
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Reduced visual acuity
Decreased clarity of vision
0007663
Reticular hyperpigmentation 0007588
Short finger
Stubby finger
0009381
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743
Short phalanx of finger
Short finger bones
0009803
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sparse hair 0008070
Spina bifida occulta 0003298
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Supernumerary nipple
Accessory nipple
0002558
Telangiectasia 0001009
X-linked dominant inheritance 0001423
Showing of 125 |
Last updated: 7/1/2020
Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family [3] For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons.[2] We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional.
Last updated: 1/29/2016

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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related 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.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses should include microphtalmia with linear skin defects (MLS) and incontinentia pigmenti (IP), as well as oculocerebrocutaneous syndrome and Rothmund-Tompson syndrome.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Focal dermal hypoplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How is this condition inherited? Does X-inactivation affect the inheritance? See answer


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