{"orpha":88630,"name":"Terminal osseous dysplasia-pigmentary defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acromelic dysplasia characterized by abnormal and/or delayed ossification of bones primarily in the hands and feet (that may lead to brachydactyly, camptodactyly, and clinodactyly), severe limb deformities, joint contractures, pigmentary skin lesions on the face and scalp and digital fibromatosis of the fingers and toes which appear a few months after birth. While the skeletal manifestations primarily affect the hands and feet, more generalized bone involvement including mesomelic bowing and/or shortening of the arms and legs have also been reported. Some patients may also present with craniofacial dysmorphism including midface hypoplasia, hypertelorism, ptosis, coloboma of the iris and eyelids, low-set ears, depressed nasal bridge, and multiple hypertrophic frenula. Additional clinical features may include short stature, short broad thorax, scoliosis, atrial septal defect and ventricular septal hypertrophy, pulmonary artery stenosis and anal stenosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88630/","orphanet_url":"https://www.orpha.net/en/disease/detail/88630","names":{"fr":{"name":"Syndrome de dysplasie osseuse terminale-défauts de pigmentation","definition":"Dysplasie acromélique rare caractérisée par une ossification anormale et/ou retardée des os, principalement des mains et des pieds (pouvant entraîner une brachydactylie, une camptodactylie et une clinodactylie), des déformations graves des membres, des contractures articulaires, des lésions cutanées pigmentaires sur le visage et le cuir chevelu, ainsi qu'une fibromatose digitale des doigts et des orteils, apparaissant quelques mois après la naissance. Si les anomalies squelettiques touchent principalement les mains et les pieds, une atteinte osseuse plus généralisée, comprenant une incurvation mésomélique et/ou un raccourcissement des bras et des jambes, a également été rapportée. Certains patients peuvent également présenter une dysmorphie craniofaciale, notamment une hypoplasie de l'étage moyen de la face, un hypertélorisme, un ptosis, un colobome de l'iris et des paupières, une implantation basse des oreilles, un pont nasal déprimé et de multiples freins hypertrophiques. D'autres caractéristiques cliniques peuvent inclure une petite taille, un thorax court et large, une scoliose, une communication interauriculaire et une hypertrophie du septum ventriculaire, une sténose de l'artère pulmonaire et une sténose anale."},"de":{"name":"Terminale Knochendysplasie-Pigmentstörung-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Hand- und Fußfehlbildungen, Pigmentstörungen der Gesichts- und Kopfhaut und Fibromatose der Finger."},"es":{"name":"Síndrome de displasia ósea terminal-defectos pigmentarios","definition":"Es una displasia acromélica poco frecuente caracterizada por osificación anómala y/o retrasada de los huesos, principalmente en las manos y los pies (que puede provocar braquidactilia, camptodactilia y clinodactilia), deformidades graves de las extremidades, contracturas articulares, lesiones pigmentarias en la piel de la cara y del cuero cabelludo, y fibromatosis digital de los dedos de las manos y de los pies, que aparecen unos meses después del nacimiento. Si bien las manifestaciones esqueléticas afectan principalmente a las manos y a los pies, también se han descrito casos de afectación ósea más generalizada, como la incurvación mesomélica y/o el acortamiento de los brazos y de las piernas. Algunos pacientes también pueden presentar dismorfia craneofacial, como hipoplasia del tercio medio facial, hipertelorismo, ptosis, coloboma del iris y de los párpados, orejas de implantación baja, puente nasal deprimido y frenillos hipertróficos múltiples. Otras características clínicas pueden incluir talla baja, tórax corto y ancho, escoliosis, comunicación interauricular e hipertrofia del tabique ventricular, estenosis de la arteria pulmonar y estenosis anal."},"it":{"name":"Displasia ossea terminale - difetti della pigmentazione"},"nl":{"name":"Terminale botdysplasie - pigmentdefecten-syndroom","definition":"Een zeldzame acromelische dysplasie, gekenmerkt door abnormale en/of vertraagde ossificatie van bot, voornamelijk in handen en voeten (wat kan leiden tot brachydactylie, camptodactylie, en clinodactylie), ernstige misvormingen van ledematen, gewrichtscontracturen, gepigmenteerde huidlaesies op het aangezicht en de scalp, en digitale fibromatose van vingers en tenen die enkele maanden na de geboorte optreedt. Terwijl de manifestaties aan het skelet vooral de handen en voeten treffen, werd ook meer gegeneraliseerde betrokkenheid van bot gerapporteerd, met onder meer mesomele kromstand en/of korte lengte van armen en benen. Sommige patiënten vertonen mogelijk ook craniofaciale dysmorfie met onder meer hypoplasie van middengezicht, hypertelorisme, ptosis, coloboom van iris en oogleden, laagstaande oren, ingezakte neusbrug, en multipele hypertrofische frenula. Mogelijke bijkomende klinische kenmerken zijn onder meer kleine gestalte, korte en brede thorax, scoliose, atriumseptumdefect en hypertrofie van ventrikelseptum, stenose van longslagader en stenose van anus."},"pt":{"name":"Síndrome de displasia óssea termina-defeitos pigmentares"},"pl":{"name":"Terminalna dysplazja kostna - zaburzenia barwnikowe"},"cs":{"name":"Syndrom zahrnující terminální kostní dysplázii a pigmentové defekty"},"uk":{"name":"Синдром термінальної кісткової дисплазії-пігментних дефектів","definition":"Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis."},"zh":{"name":"远端骨发育不良-色素缺陷综合征"},"tr":{"name":"Terminal kemik displazi-pigment defektleri sendromu"}},"xrefs":[{"source":"OMIM","code":"300244","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1298938435"},{"source":"MONDO","code":"0010279","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20598277[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26059211[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-25","source":"10982966[PMID]_26059211[PMID]_20598277[PMID]_20583181[PMID]_34254723[PMID]_25614868[PMID]_26061098[PMID]_30561107[PMID]_17152064[PMID]_31919883[PMID]_12738953[PMID]","terms":[{"hpo":"HP:0025473","label":"Hyperpigmented papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025197","label":"Inclusion body fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009139","label":"Osteolysis involving bones of the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045039","label":"Osteolysis involving bones of the upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}