{"orpha":2092,"name":"Focal dermal hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goltz syndrome","Goltz-Gorlin syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2092/","orphanet_url":"https://www.orpha.net/en/disease/detail/2092","names":{"fr":{"name":"Hypoplasie dermique en aires","synonyms":["Syndrome de Goltz","Syndrome de Goltz-Gorlin"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par des malformations des tissus dérivés du mésoderme et de l'ectoderme, se manifestant généralement par des anomalies cutanées, des malformations des membres, des malformations oculaires et une légère dysmorphie faciale."},"de":{"name":"Hypoplasie, fokale dermale","synonyms":["Goltz-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Anomalien in ektodermalen und mesodermalen Geweben gekennzeichnet ist und sich klassischerweise durch Hautanomalien, Gliedmaßenfehler, Fehlbildungen der Augen und leichte Gesichtsdysmorphien äußert."},"es":{"name":"Hipoplasia dérmica focal","synonyms":["Síndrome de Goltz"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por anomalías en los tejidos derivados del ectodermo y del mesodermo, manifestándose, clásicamente, con anomalías cutáneas, defectos de las extremidades, malformaciones oculares y dismorfia facial leve."},"it":{"name":"Ipoplasia focale del derma","synonyms":["Sindrome di Goltz"],"definition":"L'ipoplasia focale del derma (FDH) è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da anomalie nei tessuti derivati dall'ectoderma e dal mesoderma. Di solito esordisce con anomalie della cute, difetti degli arti, malformazioni oculari e dismorfismi facciali sfumati."},"nl":{"name":"Focale dermale hypoplasie","synonyms":["Syndroom van Goltz","Syndroom van Goltz-Gorlin"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door afwijkingen in weefsels afgeleid van het ectoderm en het mesoderm, en zich doorgaans manifesteert met huidanomalieën, ledemaatdefecten, oculaire malformaties, en milde faciale dysmorfie."},"pt":{"name":"Hipoplasia dérmica focal","synonyms":["Hipoplasia cutis focal","Síndrome Goltz"]},"pl":{"name":"Hipoplazja skórna ogniskowa","synonyms":["Zespół Goltza","Zespół Goltza i Gorlina"]},"cs":{"name":"Fokální dermální hypoplázie","synonyms":["Goltzův syndrom","Goltzův-Gorlinův syndrom","Goltz-Gorlinův syndrom"]},"uk":{"name":"Фокальна гіпоплазія шкіри","synonyms":["Синдром Гольца","Синдром Гольца-Горліна"],"definition":"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."},"zh":{"name":"局灶性皮肤发育不全","synonyms":["Goltz-Gorlin 综合征"]},"tr":{"name":"Fokal dermal hipoplazi","synonyms":["Goltz sendromu","Goltz-Gorlin sendromu"]}},"xrefs":[{"source":"OMIM","code":"305600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"683166625"},{"source":"MONDO","code":"0010592","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016395","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6457","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[{"symbol":"PORCN","name":"porcupine O-acyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19586929[PMID]","hgnc":"17652","ensembl":"ENSG00000102312","omim":"300651","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-16","source":"37151234[PMID]_26858134[PMID]_39256944[PMID]_26853229[PMID]_27001925[PMID]_27001926[PMID]_25657436[PMID]_2080123[PMID]_36313953[PMID]_40416445[PMID]","terms":[{"hpo":"HP:0007488","label":"Diffuse skin atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007510","label":"Focal dermal aplasia/hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000066","label":"Labial hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001809","label":"Split nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007552","label":"Abnormal subcutaneous fat tissue distribution","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001480","label":"Freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001003","label":"Multiple lentigines","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009776","label":"Adactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000060","label":"Aerophagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003191","label":"Cleft ala nasi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025313","label":"Exophoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500093","label":"Food allergy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010740","label":"Osteopathia striata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002235","label":"Pili canaliculi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000818","label":"Transverse terminal limb defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011582","label":"Abdominal ectopia cordis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002561","label":"Absent nipple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011847","label":"Giant cell tumor of bone","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}