New Research Offers Hope for Growth
By Timothy J. Fete, M.D., M.P.H.
The NFED has supported research efforts to more fully understand the growth patterns in individuals affected by focal dermal hypoplasia (FDH), also known as Goltz syndrome, for more than a decade. The NFED hosted a special International Symposium on Goltz Syndrome at Baylor College of Medicine and Texas Children’s Hospital in 2013, supporting several research projects to describe the clinical aspects of FDH.
One of the research projects was performed by Kathleen Motil, M.D., Ph.D., Timothy Fete, M.D., M.P.H. and Mary Fete,M.S.N, R.N., C.C.M.and resulted in the publication, Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia. [1] The American Journal of Medical Genetics published this article. The researchers noted height and weight deficits in the subjects studied, and that this was a concern for their parents.
Key Takeaways
- The NFED has researched Goltz syndrome and its impact on growth for over a decade, supported by various studies.
- Recent findings show 70% of affected individuals have short stature, with potential growth hormone deficiency in some cases.
- Two international case studies demonstrate effective growth hormone therapy in children with documented deficiencies.
- Healthcare professionals recommend discussing growth hormone therapy for children with Goltz syndrome who are shorter than normal.
What Causes Short Stature in Goltz Syndrome?
Drs. Motil and Fete and Mary Fete conducted a follow-up research project at the 2015 NFED Family Conference, in collaboration with the pediatric endocrinology physicians from the University of Colorado School of Medicine and Colorado Children’s Hospital. This work resulted in the publication, Growth Failure in Focal Dermal Hypoplasia, also published in the American Journal of Medical Genetics [2].
In that study, we explored a multitude of possible causes for short stature, including nutritional assessments, multiple blood studies, radiographs and growth hormone testing. Seventy percent of the subjects were found to have short stature compared to predicted height based on parental heights.
No single factor was identified to account for such a high rate of short stature in the group, but three of the subjects had screening tests that indicated the possibility of growth hormone deficiency.
Case Study Demonstrates Growth Hormone Therapy Works
Two patients with FDH have recently been described in medical journal reports from India and China [3,4]. These two children had laboratory-proven growth hormone deficiency and were each treated with growth hormone therapy with excellent response demonstrated by accelerated growth rates.
Growth hormone has been successful in safely helping young children achieve their normal predicted heights for several decades, and has been approved by the Food and Drug Administration (FDA) for administration in children with documented growth hormone deficiency, as well as some children with unknown reasons for short stature.
If your child is affected by focal dermal hypoplasia/Goltz syndrome, and has been noted by their pediatrician or family physician to be shorter than normal for their age, we strongly recommend that you discuss the possibility of growth hormone testing and potential treatment with growth hormone to help them reach their full height potential.
The research articles mentioned in this communication are listed below, so that you might share them with your child’s treating physician(s).
Research Articles About Short Stature and Growth in Goltz Syndrome
[1] Motil KJ, Fete M, Fete TJ. Growth, nutritional and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin Syndrome). Am J Med Genet C Semin Med Genet 2016; 172C:1. Doi:10.1002/ajmg.c.31468
[2] Hsu SC, Bartz S, Pyle L, et al. Growth Failure in Focal Dermal Hypoplasia. Am J Med Genet A 2019; 179:4. Doi: 10.1002/ajmg.a.61051
[3] Divyasri N, Javid J, Kunnuru S, Anne B. Focal dermal hypoplasia (Goltz Syndrome) with concurrent growth hormone deficiency and response to therapy. BMJ Case Rep 2024; 17:11. Doi: 10.1136/bcr-2024-260377
[4] Zang J, Qiao N, Li X. Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up. BMC Pediatr 2025; 25:1. Doi: 10.1186/s12887-025-06129-y.
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