Focal Dermal Hypoplasia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Focal Dermal Hypoplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Combined Mesoectodermal Dysplasia
  • DHOF
  • Ectodermal and Mesodermal Dysplasia with Osseous Involvement
  • Ectodermal and Mesodermal Dysplasia, Congenital
  • FDH
  • Focal Dermal Dysplasia Syndrome
  • Focal Dermato-Phalangeal Dysplasia
  • FODH
  • Goltz Syndrome
  • Goltz-Gorlin Syndrome

Disorder Subdivisions

  • None

General Discussion

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare multisystem disorder that principally involves the development of the skin, hands and feet and eyes. It is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. A majority of the cases of FDH (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on various parts of the body. This syndrome displays a wide array of symptoms and may affect almost any organ. FDH is caused by mutations or duplications/deletions in the PORCN gene.


FDH is a rare disorder that primarily affects females and has extreme variability. It is characterized by skin lesions that look streaked, underdeveloped or "punched-out", birth defects of the hands and feet and birth defects of the eyes. There may be inflammation, itching, reddening, blistering, and crusting of the skin. Skin may be absent, discolored or lack color (pigmentation) in some areas. The nails may be absent or appear abnormal. Wart-like growth (papillomas) are usually not present at birth but develop with age and are typically found on the gums, tongue, lips, nose, genetalia, and anus. Overgrowth of tissue may be found on the palms of the hands and soles of the feet. Excessive sweating (hyperhidrosis) or absence of sweating (hypohydrosis) is often present on the palms of the hands and soles of the feet. Nearly all individuals with focal dermal hypoplasia display at least a few of the skin abnormalities. The hair may be sparse, brittle, and/or missing.

Eye abnormalities are common and are present at birth and can include: drooping eyelids (ptosis); clouding of the cornea; a cleft along the edge of the eyeball (colobmas), involuntary rapid movement of the eye (nystagmus); absence of an eye (anophthalmia), wide spacing between the eyes; more than one color within the iris (heterochromia); dislocation of the lens; crossed eyes (strabismus); and/or exposure of the lining of the eyelid (ectropion).

Individuals with FDH may also have a variety of skeletal abnormalities, some of which may be present at birth. Curvature of the spine (scoliosis), fused vertebrae, underdeveloped or missing fingers or toes, extra fingers or toes (polydactyly), fingers or toes that have grown together (syndactyly), fingers that bend to the side (clinodactyly), permanently bent fingers (camptodactyly), and/or fusion of bones of the fingers and toes may be present. Other malformations of the skeleton may include a small skull, an underdeveloped jaw, a forward projection of the jaw, and/or uneven development of the face, limbs, or trunk. Cleft lip and palate may be present and may cause feeding, breathing, and vision problems.

Problems within the mouth are seen in more than 50 percent of patients affected. Failure of the teeth to develop properly often occurs in these patients. The teeth may be missing or underdeveloped and are unusually small or improperly spaced. Missing enamel may aid in the development of cavities.

Abnormalities of the ears, the eyes, the heart, central nervous system, gastrointestinal system, and the kidneys may also be present. Abnormalities within the gastrointestinal system may lead to problems with breathing and feeding. Intellectual disability can be found in some instances. Most patients with FDH are noted to be small at birth and have mild short stature.

An extremely wide range of symptoms characterizes FDH, making it difficult to diagnose.


In June 2007, research funded in part by the National Institutes of Health led to the identification of the gene that accounts for all cases of FDH. The gene is known as PORCN, and it creates proteins important in the development of the skin, skeleton, and eyes in a developing embryo and fetus. Recent studies of patients displaying symptoms consistent with FDH have found mutations or deletions in the PORCN gene in nearly all affected females.

The PORCN gene is found on the X chromosome, and the syndrome is a dominant X-linked trait. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22, and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome. Thus, the identified location of the PORCN gene is Xp11.23.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

X-linked dominant disorders are caused by an abnormal gene on the X chromosome and occur mostly in females. Females with these rare conditions are affected when they have an X chromosome with the gene for a particular disease. Males with an abnormal gene for an X-linked dominant disorder are more severely affected than females and often do not survive. Living males with FDH are "mosaic" for a change in the PORCN gene. This means that the change is seen in some, but not all, of the cells in their body.

Affected Populations

Prevalence estimates are not available for FDH. Approximately 200 to 300 cases have been reported worldwide, and only about 10 percent are live born males.

Standard Therapies


Diagnosis is based on clinical findings and affected babies are usually recognized at birth. DNA testing for the PORCN gene is available to confirm the diagnosis.

Clinical Testing and Workup

The diagnosis of focal dermal hypoplasia should be considered in patients with either of the following: multiple skin manifestations or one typical skin manifestation in addition to characteristic limb malformations. In order to better establish the extent of the disease and the treatment of the patient diagnosed, the following evaluations are often recommended: chest x-ray, eye exams, abdominal MRI, kidney ultrasound, hearing evaluation, and medical genetics consultation.


Treatment for patients with focal dermal hypoplasia is directed at the symptoms. Dermatological creams and protective dressings may relieve skin discomfort and prevent secondary infections. Dentures and hearing aids may be required. Heat and over-exercise should be avoided. Limb deformities may be treated with occupational therapy, assistive devices, or surgery. Surgical or laser therapy may be recommended for patients demonstrating trouble swallowing due to large fat deposits in the throat.

Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:



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Lombardi MP, Bulk S, Celli J, et al. Mutation update for the PORCN gene. Hum. Mutat. 2011;32:723–728. doi: 10.1002/humu.21505

Rosen SA, Bocklage T, Clericuzio CL. Mucocutaneous squamous papilloma with reactive lymphoid hyperplasia in two patients with focal dermal hypoplasia. Pediatr Dev Pathol. 2005;8:250-52.

Sacoor MF, Motswaledi MH. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. 2005;30:35-37.

Loguercio Leite JC, Faermann R, Rodrigues Stein N, et al. Focal dermal hyperplasia associated with split sternum - Goltz syndrome. Clin Dysmorphol. 2005;14:37-39.

Ogunbiyi AO, Adewole IO, Ogunleye O, et al. Focal dermal hyperplasia: a case report and review of the literature. West Afr J Med. 2003;22:346-49.

Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they X-linked dominant male-lethal disorders. Cytogenet Genome Res. 2002;99:289-96.

Fryssira H, Papathanassiou M, Barbounaki J, et al. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. Clin Dysmorphol. 2002;11:277-81.

Hancock S, Pryde P, Fong C, et al. Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am J Med Genet. 2002;110:370-79.


Sutton VR. Updated: 04/11/2013. Focal Dermal Hypoplasia. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-2013. Available at Accessed November 12, 2013.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Focal Dermal Hypoplasia. Entry Number; 305600: Last Update: 03/21/2013.Available at: Accessed November 12, 2013.

Goltz RW. Focal Dermal Hypoplasia Syndrome. Medscape Reference. Last Update: June 18, 2012. Available at: Accessed November 12, 2013.


National Foundation for Ectodermal Dysplasias

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Anophthalmia/Microphthalmia Registry

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Genetic and Rare Diseases (GARD) Information Center

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Ectodermal Dysplasia Society

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England, GL53 7ER

United Kingdom

Tel: 4401242261332

Tel: 4407805775703



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