focal dermal hypoplasia
Findings
No curated finding names focal dermal hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
Definition from the Mondo Disease Ontology (MONDO:0010592), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
111 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 1 of 1 reported patient
- Focal dermal aplasia/hypoplasiaHPOHP:0007510
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- 1 of 1 reported patient
- Pointed chinHPOHP:0000307
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Ridged nailHPOHP:0001807
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Short 4th metacarpalHPOHP:0010044
- 1 of 1 reported patient
Show the remaining 99
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Primary microcephalyHPOHP:0011451
- Very frequent (80% to 99% of cases)
- Split nailHPOHP:0001809
- Very frequent (80% to 99% of cases)
- Abnormal helix morphologyHPOHP:0011039
- Frequent (30% to 79% of cases)
- Abnormal subcutaneous fat tissue distributionHPOHP:0007552
- Frequent (30% to 79% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PORCNHGNC:17652
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2019
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: focal dermal hypoplasia
- Also called
- focal dermal hypoplasia, X-linked dominantGoltz syndromeGoltz-Gorlin syndrome