Short answer · Medically reviewed summary · Last updated: 2026-05-08
Focal Dermal Hypoplasia, also known as Goltz syndrome, is classified under the ICD-10 code Q82.8 (Other specified congenital malformations of skin) and the ICD-9 code 757.39 (Other specified congenital anomalies of skin). These codes are used for medical billing and administrative tracking, as there is no single, unique code dedicated exclusively to this rare multisystem disorder. What is the clinical nature of Focal Dermal Hypoplasia? Focal Dermal Hypoplasia is a rare, multisystemic genetic disorder characterized by skin abnormalities, such as areas of skin thinning (atrophy) and fat herniations, alongside potential skeletal, dental, and ocular defects.
ICD10 code of Focal Dermal Hypoplasia and ICD9 code
ICD-10 and ICD-9 codes for Focal Dermal Hypoplasia, with classification details for clinicians, coders and patients.
Focal Dermal Hypoplasia, also known as Goltz syndrome, is classified under the ICD-10 code Q82.8 (Other specified congenital malformations of skin) and the ICD-9 code 757.39 (Other specified congenital anomalies of skin). These codes are used for medical billing and administrative tracking, as there is no single, unique code dedicated exclusively to this rare multisystem disorder.
What is the clinical nature of Focal Dermal Hypoplasia?
Focal Dermal Hypoplasia is a rare, multisystemic genetic disorder characterized by skin abnormalities, such as areas of skin thinning (atrophy) and fat herniations, alongside potential skeletal, dental, and ocular defects. Because the condition affects multiple body systems, patients often require a multidisciplinary care team to address the diverse symptoms associated with Focal Dermal Hypoplasia.
Is Focal Dermal Hypoplasia hereditary?
Yes, Focal Dermal Hypoplasia is an X-linked dominant condition caused by mutations in the PORCN gene. Because it is lethal in most males, it is predominantly observed in females. Genetic counseling is essential for families, as the inheritance pattern often involves de novo mutations, though it can be passed from an affected mother to her offspring.
How is the diagnosis of Focal Dermal Hypoplasia confirmed?
Diagnosis is primarily clinical, based on the physical presentation of skin lesions, but it is confirmed through molecular genetic testing to identify the PORCN mutation. Clinical specialists often look for the following diagnostic indicators:
- Linear areas of skin atrophy and telangiectasia.
- Herniation of subcutaneous fat through the dermal layer.
- Digital anomalies, such as syndactyly or ectrodactyly.
- Dental irregularities, including hypodontia or enamel defects.
- Ocular findings, such as coloboma or microphthalmia.
Next steps
- Consult with a clinical geneticist to discuss testing and inheritance risks.
- Schedule multidisciplinary evaluations with dermatology, ophthalmology, and dentistry specialists.
- Connect with the 29 community members on DiseaseMaps.org who share their experiences living with Focal Dermal Hypoplasia.
- Monitor for new research and clinical trials via the NIH GARD portal.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: Focal Dermal Hypoplasia (ORPHA:367)
- NIH Genetic and Rare Diseases Information Center (GARD): Goltz syndrome
- OMIM (Online Mendelian Inheritance in Man): #305600 Focal Dermal Hypoplasia
- National Organization for Rare Disorders (NORD): Focal Dermal Hypoplasia
