raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2092

Focal dermal hypoplasia

Synonyms: Goltz syndrome · Goltz-Gorlin syndrome

Type
Malformation syndrome
Group
Disorder
Inheritance
X-linked dominant
Age of onset
Antenatal, Neonatal
Status
active

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFocal dermal hypoplasiaGoltz syndrome · Goltz-Gorlin syndrome
frHypoplasie dermique en airesSyndrome de Goltz · Syndrome de Goltz-Gorlin
deHypoplasie, fokale dermaleGoltz-Syndrom
esHipoplasia dérmica focalSíndrome de Goltz
itIpoplasia focale del dermaSindrome di Goltz
nlFocale dermale hypoplasieSyndroom van Goltz · Syndroom van Goltz-Gorlin
ptHipoplasia dérmica focalHipoplasia cutis focal · Síndrome Goltz
plHipoplazja skórna ogniskowaZespół Goltza · Zespół Goltza i Gorlina
csFokální dermální hypoplázieGoltzův syndrom · Goltzův-Gorlinův syndrom · Goltz-Gorlinův syndrom
ukФокальна гіпоплазія шкіриСиндром Гольца · Синдром Гольца-Горліна
zh局灶性皮肤发育不全Goltz-Gorlin 综合征
trFokal dermal hipoplaziGoltz sendromu · Goltz-Gorlin sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM305600Evalidated
ICD-10Q82.8NTBTindexvalidated
ICD-11LD27.0YNTBTindexvalidated
MONDO0010592Evalidated
MeSHD005489Evalidated
UMLSC0016395Evalidated
GARD6457Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (9):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PORCNDisease-causing germline mutation(s) inAssessedHGNC:17652ENSG00000102312300651Xp11.23porcupine O-acyltransferase19586929[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families300 casesWorldwideCase(s)ValidatedORPHANET
Point prevalence<1 / 1 000 000—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

107 annotations · validated 2026-06-16
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0007488Diffuse skin atrophy
HP:0000324Facial asymmetry
HP:0007510Focal dermal aplasia/hypoplasia
HP:0000066Labial hypoplasia
HP:0009123Mixed hypo- and hyperpigmentation of the skin
HP:0002164Nail dysplasia
HP:0008404Nail dystrophy
HP:0011451Primary microcephaly
HP:0001807Ridged nail
HP:0001809Split nail
Frequent (79-30%)
HP:0011039Abnormal helix morphology
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0001057Aplasia cutis congenita
HP:0002299Brittle hair
HP:0000455Broad nasal tip
HP:0000567Chorioretinal coloboma
HP:0100543Cognitive impairment
HP:0002019Constipation
HP:0000992Cutaneous photosensitivity
HP:0000689Dental malocclusion
HP:0000958Dry skin
HP:0100257Ectrodactyly
HP:0006297Enamel hypoplasia
HP:0010783Erythema
HP:0002213Fine hair
HP:0001030Fragile skin
HP:0001480Freckling
HP:0100790Hernia
HP:0000668Hypodontia
HP:0000966Hypohidrosis
HP:0000327Hypoplasia of the maxilla
HP:0001249Intellectual disability
HP:0000612Iris coloboma
HP:0002808Kyphosis
HP:0100559Lower limb asymmetry
HP:0000568Microphthalmia
HP:0001003Multiple lentigines
HP:0000446Narrow nasal bridge
HP:0000639Nystagmus
HP:0000982Palmoplantar keratoderma
HP:0012740Papilloma
HP:0002232Patchy alopecia
HP:0000307Pointed chin
HP:0000989Pruritus
HP:0003026Short long bone
HP:0004322Short stature
HP:0200041Skin erosion
HP:0200036Skin nodule
HP:0001792Small nail
HP:0008070Sparse hair
HP:0001482Subcutaneous nodule
HP:0001159Syndactyly
HP:0100585Telangiectasia of the skin
HP:0000963Thin skin
HP:0009804Tooth agenesis
HP:0009886Trichorrhexis nodosa
HP:0000430Underdeveloped nasal alae
Occasional (29-5%)
HP:0002027Abdominal pain
HP:0001627Abnormal heart morphology
HP:0000772Abnormal rib morphology
HP:0009776Adactyly
HP:6000060Aerophagia
HP:0001798Anonychia
HP:0000528Anophthalmia
HP:0000987Atypical scarring of skin
HP:0000518Cataract
HP:0003191Cleft ala nasi
HP:0410030Cleft lip
HP:0000175Cleft palate
HP:0000776Congenital diaphragmatic hernia
HP:0007957Corneal opacity
HP:0002247Duodenal atresia
HP:0000565Esotropia
HP:0025313Exophoria
HP:0500093Food allergy
HP:0002020Gastroesophageal reflux
HP:0000365Hearing impairment
HP:0000023Inguinal hernia
HP:0002566Intestinal malrotation
HP:0002751Kyphoscoliosis
HP:0000369Low-set ears
HP:0000482Microcornea
HP:0001539Omphalocele
HP:0010740Osteopathia striata
HP:0002235Pili canaliculi
HP:0003777Pili torti
HP:0010442Polydactyly
HP:0001058Poor wound healing
HP:0000107Renal cyst
HP:0000486Strabismus
HP:6000818Transverse terminal limb defect
HP:0001537Umbilical hernia
HP:0002948Vertebral fusion
Very rare (<4-1%)
HP:0011582Abdominal ectopia cordis
HP:0045026Abnormal mediastinum morphology
HP:0002561Absent nipple
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0000656Ectropion
HP:0004890Elevated pulmonary artery pressure
HP:0011847Giant cell tumor of bone
HP:0000085Horseshoe kidney
HP:0000126Hydronephrosis
HP:0000677Oligodontia
HP:0008678Renal hypoplasia/aplasia
HP:0002414Spina bifida
HP:0002558Supernumerary nipple
HP:0001629Ventricular septal defect

Run the differential on the 10 obligate / very frequent terms

Annotation source: 37151234[PMID]_26858134[PMID]_39256944[PMID]_26853229[PMID]_27001925[PMID]_27001926[PMID]_25657436[PMID]_2080123[PMID]_36313953[PMID]_40416445[PMID]

7

Sources for this card